P19022
PR
Gene name |
CDH2 (CDHN, NCAD) |
Protein name |
Cadherin-2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1000 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P19022
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P19022-F1 | Predicted | AlphaFoldDB |
705 variants for P19022
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087507 | 150 | H>Y | ADHD8; decreased propeptide cleavage [UniProt] | Yes | UniProt |
|
rs2013111940 RCV001195098 VAR_084438 |
162 | V>D | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome ACOGS; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001194670 rs965753331 VAR_084439 |
229 | Q>P | Arrhythmogenic right ventricular dysplasia, familial, 14 ARVD14; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001254682 VAR_084440 RCV001261826 rs1599017933 RCV001007452 CA402111677 |
353 | D>N | Corpus callosum, agenesis of ACOGS; decreased function in cell-cell adhesion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001194671 VAR_084441 CA8923480 COSM173705 RCV002508294 rs568089577 |
407 | D>N | Arrhythmogenic right ventricular dysplasia, familial, 14 Variant assessed as Somatic; 0.0 impact. large_intestine ARVD14; unknown pathological significance [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
| VAR_084442 | 525 | D>G | ACOGS; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001195092 RCV001261827 rs1599011050 VAR_084443 CA402107570 RCV001007453 |
597 | D>N | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Corpus callosum, agenesis of ACOGS; decreased function in cell-cell adhesion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001007454 CA402107569 RCV001195093 VAR_084444 rs1599011050 |
597 | D>Y | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Corpus callosum, agenesis of ACOGS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_084445 rs201775968 RCV001007455 CA402107536 |
601 | N>T | Corpus callosum, agenesis of ACOGS; decreased function in cell-cell adhesion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_084446 | 603 | P>S | ACOGS; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_084447 RCV001007456 rs754880999 CA402107453 |
613 | C>W | Corpus callosum, agenesis of ACOGS; decreased function in cell-cell adhesion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA402107366 RCV001261828 VAR_084448 RCV001007457 rs1599010918 |
627 | D>G | Corpus callosum, agenesis of ACOGS; decreased function in cell-cell adhesion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002462248 CA402107023 RCV001007458 RCV000991214 RCV001261829 RCV001195094 rs199984052 VAR_084449 |
676 | Y>C | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Corpus callosum, agenesis of ACOGS; decreased function in cell-cell adhesion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA402106923 RCV000656331 rs1555630396 |
692 | N>S | Cerebral arteriovenous malformation [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001007459 rs1598982488 RCV001195095 RCV001261830 |
855 | L>missing | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Corpus callosum, agenesis of [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1598982483 RCV001261831 RCV001007460 RCV001195096 |
856 | L>missing | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome Corpus callosum, agenesis of [ClinVar] | Yes |
ClinVar dbSNP |
|
CA402245150 rs761151029 |
3 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323181717 CA402245147 |
3 | R>Q | No |
ClinGen TOPMed |
|
|
rs761151029 CA8923864 |
3 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402245134 rs1284853215 |
5 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1598530655 CA402245123 |
7 | A>G | No |
ClinGen Ensembl |
|
|
rs1568028773 CA402245127 |
7 | A>T | No |
ClinGen Ensembl |
|
|
rs1293733346 CA402245119 |
8 | L>P | No |
ClinGen gnomAD |
|
|
CA402245120 rs1369360558 |
8 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402245116 rs1403830213 |
9 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA402245115 rs1403830213 |
9 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA297936936 rs879030779 |
10 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs773400550 CA402245108 |
10 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773400550 CA8923863 |
10 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879030779 CA402245110 |
10 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs879030779 CA402245111 |
10 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 11 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363152842 CA402245090 |
13 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1420154381 CA402245096 |
13 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1434663670 CA402245084 |
14 | L>P | No |
ClinGen gnomAD |
|
|
CA402245070 rs1456038030 |
16 | A>T | No |
ClinGen TOPMed |
|
|
rs1490213867 CA402245062 |
16 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1219438806 CA402245052 |
17 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1214159271 CA402245039 |
19 | L>F | No |
ClinGen gnomAD |
|
|
rs1332308156 CA402245023 |
20 | Q>H | No |
ClinGen TOPMed |
|
|
CA297933417 rs751608409 |
21 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_028254 CA8923844 rs17495042 |
21 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8923843 rs751608409 |
21 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201041020 CA297933416 |
23 | V>A | No |
ClinGen TOPMed |
|
|
rs755151089 CA8923841 |
23 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs146386375 CA8923840 |
24 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923839 rs766647206 |
26 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1462592216 CA402244723 |
27 | G>C | No |
ClinGen gnomAD |
|
|
rs1462592216 CA402244721 |
27 | G>S | No |
ClinGen gnomAD |
|
|
CA402244697 rs1372513645 |
29 | I>N | No |
ClinGen gnomAD |
|
|
CA8923837 COSM1388208 rs200711868 |
30 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 32 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201462293 CA8923835 |
33 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774902934 CA8923834 |
37 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274623800 CA402244601 |
38 | E>K | No |
ClinGen TOPMed |
|
|
CA402244579 rs879180473 |
39 | D>E | No |
ClinGen TOPMed |
|
|
CA8923833 rs769118218 |
39 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 39 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769118218 CA402244582 |
39 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402244578 rs1197088956 |
40 | V>I | No |
ClinGen TOPMed |
|
|
CA8923831 rs757055934 |
41 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA8923829 rs774927665 |
44 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402244528 rs1246347582 |
44 | V>F | No |
ClinGen gnomAD |
|
|
rs780887307 CA8923826 |
46 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1026380265 CA297933412 |
50 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs150672295 CA8923823 |
50 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459488007 CA402244380 |
57 | N>S | No |
ClinGen gnomAD |
|
|
CA8923755 rs202205175 |
64 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779271742 CA8923754 |
64 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1357817564 CA402244791 |
65 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8923752 rs201274796 |
66 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs766988186 CA8923751 |
67 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755723588 COSM366256 CA8923750 |
69 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1372835307 CA402244724 |
70 | Q>E | No |
ClinGen TOPMed |
|
|
rs1290280143 CA402244686 |
72 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402244627 rs1431697220 |
75 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8923748 COSM183558 rs767296927 |
77 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763887861 CA402244580 |
78 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763887861 CA8923745 |
78 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237757504 CA402244523 |
81 | V>M | No |
ClinGen TOPMed |
|
|
rs762655258 CA8923744 |
82 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs376492579 CA8923743 |
83 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923742 rs373421991 |
84 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923740 rs773237462 |
86 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA297918376 rs868620601 |
89 | A>V | No |
ClinGen Ensembl |
|
|
CA8923738 rs778990479 |
90 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1200443 CA8923737 rs778990479 |
90 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8923736 rs150017015 |
92 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8923735 rs188546474 |
92 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756638795 CA8923733 |
94 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA402244335 rs1354225874 |
95 | L>V | No |
ClinGen TOPMed |
|
|
rs1361176600 TCGA novel CA402244325 |
96 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs113785794 CA8923731 |
99 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8923732 rs562222525 |
99 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 101 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402244292 rs1404361272 |
101 | K>N | No |
ClinGen TOPMed |
|
|
rs750207054 CA297918374 |
101 | K>R | No |
ClinGen Ensembl |
|
|
CA402244282 rs1274222569 |
103 | L>V | No |
ClinGen TOPMed |
|
|
rs1177369468 CA402244274 |
104 | I>T | No |
ClinGen gnomAD |
|
|
rs1469377111 CA402244263 |
106 | A>T | No |
ClinGen gnomAD |
|
|
rs756870194 CA8923730 |
107 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs751296292 CA8923729 |
108 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402244239 rs1429699775 |
109 | K>R | No |
ClinGen gnomAD |
|
|
CA8923728 rs552668002 |
110 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762857696 CA8923727 |
111 | T>N | No |
ClinGen ExAC |
|
|
rs368957587 CA8923725 |
112 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 115 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17445840 CA402244176 |
118 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_028255 CA8923722 rs17445840 |
118 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374765506 CA8923719 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA8923718 rs749692083 |
124 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA8923716 rs770426519 |
126 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA402244119 rs1197514285 |
127 | L>* | No |
ClinGen TOPMed |
|
|
CA297918373 rs971731737 |
127 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs781533778 CA402244120 |
127 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751016097 CA402244115 |
128 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199902980 CA8923710 |
128 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923713 rs751016097 |
128 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3362484 CA8923711 rs199902980 |
128 | T>S | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8923712 COSM3362484 rs751016097 |
128 | T>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM708203 rs963079228 CA297918371 |
129 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs202040611 CA8923708 |
131 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183606230 CA8923709 |
131 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759313084 CA8923707 |
132 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs980711081 CA297918370 |
133 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs202032913 CA8923689 |
134 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402244051 rs1248902182 |
137 | E>K | No |
ClinGen gnomAD |
|
|
CA402244048 rs1396498254 |
137 | E>V | No |
ClinGen TOPMed |
|
|
CA402244038 rs1393606084 |
138 | V>D | No |
ClinGen TOPMed |
|
|
CA402244043 rs1306883724 |
138 | V>I | No |
ClinGen TOPMed |
|
|
CA402244037 rs1393676210 |
139 | E>K | No |
ClinGen TOPMed |
|
|
CA402244009 rs1315829375 |
142 | V>A | No |
ClinGen gnomAD |
|
|
CA297918216 rs1036764661 |
143 | F>L | No |
ClinGen Ensembl |
|
|
rs755964535 CA8923686 |
145 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 147 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352509680 CA402243977 |
147 | F>S | No |
ClinGen gnomAD |
|
|
rs764209293 CA8923684 |
148 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8923683 rs554270276 |
149 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8923682 rs765538223 |
151 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765538223 CA8923681 |
151 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395522862 RCV001352489 CA402243875 |
161 | W>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA297918214 rs17853635 |
164 | P>S | No |
ClinGen Ensembl |
|
|
COSM378243 rs79870170 CA402243818 |
169 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs79870170 CA297918213 |
169 | P>Q | No |
ClinGen gnomAD |
|
|
rs773758651 CA8923676 |
172 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8923674 rs574618454 |
175 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 177 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA297918211 rs200759565 |
179 | E>G | No |
ClinGen Ensembl |
|
|
rs1188836783 CA402243676 |
188 | D>E | No |
ClinGen gnomAD |
|
|
CA402243673 rs1342149311 |
189 | K>E | No |
ClinGen gnomAD |
|
|
rs1599030865 CA402243664 |
190 | N>T | No |
ClinGen Ensembl |
|
|
rs201863564 CA8923651 |
191 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs773733261 CA8923650 |
194 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402243642 rs1228174771 |
194 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA297918005 rs1041970 VAR_028256 |
196 | S>T | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs779081435 CA8923647 |
202 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402243585 rs1599030808 |
203 | D>A | No |
ClinGen Ensembl |
|
|
rs1411133816 CA402243583 |
203 | D>E | No |
ClinGen gnomAD |
|
|
rs754074697 CA8923645 |
204 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA8923644 rs766594147 |
205 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs566720668 CA297918004 |
205 | P>S | No |
ClinGen 1000Genomes |
|
|
CA8923642 rs150141832 |
207 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402243563 rs1386798655 |
207 | T>N | No |
ClinGen gnomAD |
|
|
CA8923643 rs150141832 |
207 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA297918003 rs759628845 |
211 | I>V | No |
ClinGen Ensembl |
|
|
CA297918002 rs1041972 VAR_028257 |
212 | I>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA402243523 rs1445536352 |
213 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8923640 rs762240435 |
214 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923639 rs199664916 COSM987344 |
216 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 216 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA297918001 rs200892019 |
218 | Q>H | No |
ClinGen Ensembl |
|
|
CA8923637 rs199534055 |
220 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257768241 CA402243470 |
222 | T>I | No |
ClinGen TOPMed |
|
|
rs1340647299 CA402243459 |
224 | P>T | No |
ClinGen gnomAD |
|
|
COSM987343 rs997137643 CA297918000 |
227 | R>C | Variant assessed as Somatic; 4.624e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs769462371 COSM1388203 CA8923635 |
227 | R>H | large_intestine Variant assessed as Somatic; 9.249e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781072123 CA8923633 |
229 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs965753331 CA297917998 |
229 | Q>R | No |
ClinGen gnomAD |
|
|
rs747002190 CA8923631 |
231 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs202029952 CA297917997 |
232 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8923628 rs753933914 |
232 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202029952 CA402243410 |
232 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA402243395 rs1413369773 |
234 | H>R | No |
ClinGen gnomAD |
|
|
CA402243363 rs1192216323 |
237 | A>S | No |
ClinGen gnomAD |
|
|
rs565814282 CA8923606 |
241 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402243321 rs1599027388 |
243 | N>S | No |
ClinGen Ensembl |
|
|
CA402243296 rs1245403455 |
246 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1329481665 CA402243266 |
251 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751897139 CA8923604 |
253 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA297917549 rs878882795 |
256 | N>K | No |
ClinGen TOPMed |
|
|
rs1465038852 CA402243229 |
256 | N>S | No |
ClinGen TOPMed |
|
|
rs754438729 CA297917547 |
260 | M>I | No |
ClinGen Ensembl |
|
|
CA402243203 rs1409622589 |
260 | M>L | No |
ClinGen TOPMed |
|
|
CA402243133 rs1229222461 |
269 | H>R | No |
ClinGen TOPMed |
|
|
rs764528943 CA8923603 |
272 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs758876499 CA8923602 |
273 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA402243086 rs1365406186 |
276 | V>F | No |
ClinGen gnomAD |
|
|
CA402243068 rs1300747599 |
279 | G>R | No |
ClinGen TOPMed |
|
|
CA402243057 rs1290459524 |
280 | S>L | No |
ClinGen gnomAD |
|
|
CA297917545 rs764864158 |
281 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1382300148 CA402243023 |
284 | T>S | No |
ClinGen TOPMed |
|
|
CA8923579 rs760335891 |
286 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1389872035 CA402243009 |
286 | V>L | No |
ClinGen gnomAD |
|
|
CA297917258 rs1034256401 |
287 | M>I | No |
ClinGen Ensembl |
|
|
CA8923577 COSM1388201 rs142589795 |
289 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs142589795 CA297917257 |
289 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770769359 CA297917256 |
290 | T>A | No |
ClinGen Ensembl |
|
|
rs958752112 CA297917255 |
292 | I>V | No |
ClinGen TOPMed |
|
|
rs761508961 CA402242958 |
294 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402242961 COSM987338 rs1199412138 |
294 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA8923576 rs761508961 |
294 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768554447 CA8923574 COSM1711056 |
296 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8923573 rs201695474 COSM1200444 |
298 | N>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200798903 CA297917254 |
298 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200798903 CA8923572 |
298 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs892895034 CA297917253 |
299 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1342538298 CA402242922 |
300 | L>P | No |
ClinGen gnomAD |
|
|
CA297917252 rs374009883 |
301 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA8923571 rs184596097 |
302 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 305 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923569 rs777857003 |
306 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402242869 rs1431008052 |
308 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146668864 CA402242864 CA8923567 |
309 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146668864 CA8923566 |
309 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs542324094 CA8923565 |
314 | S>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs753401951 CA8923564 |
317 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 317 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779651386 CA8923563 |
318 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143855545 CA8923562 |
320 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA297917250 rs1019297487 |
322 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA402242772 rs1182264806 |
323 | I>T | No |
ClinGen gnomAD |
|
|
CA402242775 rs1173487341 |
323 | I>V | No |
ClinGen TOPMed |
|
|
CA8923561 rs369552063 |
325 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 327 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 328 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202045628 CA297917249 |
328 | G>R | No |
ClinGen Ensembl |
|
|
rs1224469921 CA402242731 |
329 | D>G | No |
ClinGen gnomAD |
|
|
rs1224469921 CA402242730 |
329 | D>V | No |
ClinGen gnomAD |
|
|
rs761713124 CA8923559 |
330 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs200593657 CA8923558 |
331 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8923557 rs764046987 |
332 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402242710 rs1410496390 |
333 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762821933 CA8923556 |
335 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA402242683 rs1391837593 |
337 | L>P | No |
ClinGen gnomAD |
|
|
CA297917247 rs199703048 |
339 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297917248 rs199703048 |
339 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201205775 CA297917246 |
339 | R>Q | No |
ClinGen gnomAD |
|
|
rs1177948036 CA402112015 |
341 | K>E | No |
ClinGen gnomAD |
|
|
CA402111994 rs1478351166 |
341 | K>R | No |
ClinGen gnomAD |
|
|
rs1478351166 CA402111996 |
341 | K>T | No |
ClinGen gnomAD |
|
|
CA8923531 rs773126408 |
342 | V>A | No |
ClinGen ExAC |
|
|
rs1300965782 CA402111979 |
342 | V>M | No |
ClinGen TOPMed |
|
|
CA8923530 rs200230960 |
343 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297687554 rs376933549 |
343 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923529 rs376933549 |
343 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 344 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774700140 CA8923528 |
345 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA8923526 COSM563683 rs749639068 |
346 | T>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749639068 CA8923527 |
346 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923524 rs770147491 |
348 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402111810 rs1274037988 |
348 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA402111702 rs1346388630 |
352 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1231569307 CA402111595 |
357 | N>D | No |
ClinGen gnomAD |
|
|
COSM1303647 CA402111589 rs1209862742 |
357 | N>S | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA402111578 rs1555631406 |
358 | P>A | No |
ClinGen Ensembl |
|
|
rs1297894688 CA402111550 |
361 | G>S | No |
ClinGen gnomAD |
|
|
rs1599017896 CA402111522 |
365 | T>P | No |
ClinGen Ensembl |
|
|
rs756781191 CA8923521 |
367 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200933425 CA8923520 |
367 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 367 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230791486 CA402111508 |
368 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8923517 rs149610799 |
369 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923516 rs765252957 |
370 | I>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750531758 CA8923514 |
376 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402111444 rs1212363792 |
378 | N>H | No |
ClinGen gnomAD |
|
|
rs199977445 CA8923513 |
378 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs867449013 CA297687465 COSM183549 |
379 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs867449013 CA402111437 |
379 | P>T | No |
ClinGen gnomAD |
|
|
rs1397542114 CA402111397 |
385 | M>V | No |
ClinGen gnomAD |
|
|
COSM1247825 rs764389179 CA8923510 |
386 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs753115623 CA8923487 |
389 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402110819 rs753115623 |
389 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599017225 CA402110716 |
393 | E>V | No |
ClinGen Ensembl |
|
|
rs200655366 CA297686615 |
397 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1479938758 CA402110584 |
398 | I>S | No |
ClinGen gnomAD |
|
|
CA8923485 rs150850339 |
399 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 400 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402110511 rs1297670315 |
401 | A>D | No |
ClinGen TOPMed |
|
|
CA402110425 rs1450731942 |
404 | T>I | No |
ClinGen gnomAD |
|
|
CA8923483 rs771423706 |
405 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778620928 CA8923478 |
410 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA402110262 rs1599017158 |
410 | Q>H | No |
ClinGen Ensembl |
|
|
CA402110236 rs1270005384 |
412 | H>P | No |
ClinGen TOPMed |
|
|
CA297686564 rs111449046 |
413 | T>I | No |
ClinGen Ensembl |
|
|
rs1599017138 CA402110222 |
413 | T>P | No |
ClinGen Ensembl |
|
|
CA8923475 rs779873167 |
415 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs199631702 CA8923477 |
415 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8923476 rs199631702 |
415 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 417 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402110139 rs1185237692 |
417 | N>S | No |
ClinGen TOPMed |
|
|
rs200263846 CA8923472 |
418 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758537458 CA8923470 |
419 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs202058357 CA8923469 |
421 | R>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1523339 CA8923467 rs201382169 |
425 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8923465 rs766881004 |
429 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs202198632 CA402109847 |
430 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923463 rs202198632 |
430 | R>Q | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199882009 CA8923464 COSM1388198 |
430 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599017041 CA402109842 |
431 | F>V | No |
ClinGen Ensembl |
|
|
rs1218458192 CA402109827 |
432 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs142861371 CA8923458 |
436 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs17853634 COSM1711055 CA8923457 |
437 | P>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs17853634 CA297686471 |
437 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8923456 rs769866300 |
438 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1361440922 CA402109713 |
439 | S>G | No |
ClinGen gnomAD |
|
|
CA8923453 rs748210936 |
441 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923454 rs781246502 |
441 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 442 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402109646 rs1599016975 |
443 | L>V | No |
ClinGen Ensembl |
|
|
rs200033452 CA402109615 |
445 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs200033452 CA297686430 |
445 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs377069261 CA8923449 |
446 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201819341 CA297686417 |
447 | V>F | No |
ClinGen Ensembl |
|
|
rs200980787 CA297686410 |
448 | K>* | No |
ClinGen Ensembl |
|
|
CA8923415 rs759436092 |
449 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923414 rs776502285 |
449 | P>L | No |
ClinGen ExAC |
|
|
rs759436092 CA402109429 |
449 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200762335 CA297684390 |
450 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200254715 CA402109421 |
450 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200762335 CA8923412 |
450 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773021925 CA8923409 |
451 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768822745 CA8923408 |
453 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs17857112 VAR_048503 CA297684375 |
454 | T>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1387623128 CA402109394 |
454 | T>R | No |
ClinGen gnomAD |
|
|
rs529923349 CA8923406 |
455 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA402109384 rs1290759313 |
456 | R>K | No |
ClinGen TOPMed |
|
|
rs562836496 CA8923405 |
457 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746232611 CA8923404 |
460 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201799084 CA8923403 |
461 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329166602 CA402109352 |
461 | T>P | No |
ClinGen TOPMed |
|
|
rs1275974054 CA402109346 |
462 | V>L | No |
ClinGen TOPMed |
|
|
rs1368666457 CA402109341 |
463 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201018302 CA297684338 |
467 | Q>* | No |
ClinGen Ensembl |
|
|
rs1567952487 CA402109291 |
470 | L>S | No |
ClinGen Ensembl |
|
|
CA297684330 rs267605139 |
471 | A>T | No |
ClinGen Ensembl |
|
|
CA402109281 rs1473917332 |
472 | K>E | No |
ClinGen gnomAD |
|
|
CA8923400 rs778109471 |
473 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA402109268 rs1481966925 |
474 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 475 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923398 rs752215297 |
476 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs752215297 CA8923399 |
476 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs182701313 CA297684286 |
477 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8923397 rs182701313 |
477 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1489617243 CA402109235 |
479 | Q>* | No |
ClinGen gnomAD |
|
|
rs374121586 COSM1247821 CA8923395 |
479 | Q>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs771852330 CA8923391 |
484 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8923392 rs17853633 |
484 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8923390 rs763047448 |
485 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA402109193 rs1599015021 |
486 | V>A | No |
ClinGen Ensembl |
|
|
rs1428236027 CA402109197 |
486 | V>I | No |
ClinGen TOPMed |
|
|
rs1428236027 CA402109196 |
486 | V>L | No |
ClinGen TOPMed |
|
|
CA402109186 rs1327331010 |
487 | T>I | No |
ClinGen gnomAD |
|
|
CA402109175 rs1236877209 |
489 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM460149 rs201148355 CA8923388 |
491 | V>I | cervix Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8923387 rs201148355 |
491 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 493 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923386 rs781265304 |
494 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs771364472 CA8923385 |
494 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs200059562 CA8923383 |
495 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923384 rs200059562 |
495 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159250321 CA402109111 |
499 | P>A | No |
ClinGen gnomAD |
|
|
rs1272545722 CA402109109 |
499 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 500 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201866479 CA8923382 |
500 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923380 rs778627728 |
502 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 504 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923378 rs754534891 |
504 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8923377 rs753588105 COSM1388196 |
505 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8923375 rs143201939 |
505 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143201939 CA8923376 |
505 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402109047 rs1599014916 |
506 | Q>H | No |
ClinGen Ensembl |
|
|
rs113274786 CA297684149 |
507 | E>G | No |
ClinGen Ensembl |
|
|
CA8923374 rs750142878 |
509 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402109012 rs750142878 |
509 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879152118 CA297684141 |
512 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA402108979 rs1196731334 |
512 | A>T | No |
ClinGen TOPMed |
|
|
CA297684140 rs879152118 COSM708208 |
512 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1235894596 CA402108966 |
513 | G>D | No |
ClinGen gnomAD |
|
|
rs201838069 CA8923371 |
513 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8923370 rs201838069 |
513 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8923369 rs765366885 |
514 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200987144 CA297684122 |
514 | T>S | No |
ClinGen Ensembl |
|
|
rs759578721 CA8923368 |
515 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402108947 rs1303115025 |
515 | M>V | No |
ClinGen gnomAD |
|
|
CA402108919 rs1405234964 |
517 | T>I | No |
ClinGen TOPMed |
|
|
rs1405234964 CA402108921 |
517 | T>R | No |
ClinGen TOPMed |
|
|
CA8923367 rs149079132 |
518 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771020355 CA8923366 COSM183548 |
519 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8923365 rs138057585 |
520 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402108890 rs138057585 |
520 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199541172 CA297684049 |
522 | Q>R | No |
ClinGen Ensembl |
|
|
CA402108821 rs748735492 COSM987332 |
526 | R>* | large_intestine Variant assessed as Somatic; impact. endometrium skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748735492 CA8923362 |
526 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8923361 COSM1711054 rs150313483 |
526 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8923359 rs748700492 |
528 | M>I | No |
ClinGen ExAC |
|
|
rs754586246 CA8923360 |
528 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA402108764 rs1189336898 |
530 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs199725442 CA297683982 |
532 | I>T | No |
ClinGen Ensembl |
|
|
CA297682826 rs546438155 |
535 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402108242 rs1270723918 |
535 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs546438155 CA8923335 |
535 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745573480 CA8923334 |
537 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8923333 rs370514300 |
538 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370514300 CA402108206 |
538 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402108198 rs1327936760 |
539 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 541 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402108176 rs1409652618 |
541 | A>S | No |
ClinGen gnomAD |
|
|
rs1409652618 CA402108179 |
541 | A>T | No |
ClinGen gnomAD |
|
|
CA297682783 rs140291781 |
542 | N>S | No |
ClinGen ESP |
|
| TCGA novel | 543 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 544 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA297682770 rs202132709 |
545 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 545 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 546 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM243597 rs1475551106 CA402108117 |
546 | I>V | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1320677700 CA402108091 |
548 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201042909 CA8923331 |
549 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA402108063 rs1209171727 |
550 | N>K | No |
ClinGen TOPMed |
|
|
CA297682748 rs199900123 |
551 | G>A | No |
ClinGen TOPMed |
|
|
rs764115203 CA297682747 |
555 | T>A | No |
ClinGen gnomAD |
|
|
CA297682737 rs878964002 |
556 | I>T | No |
ClinGen Ensembl |
|
|
rs1486274548 CA402108003 |
556 | I>V | No |
ClinGen TOPMed |
|
|
CA402107983 rs1247759762 |
558 | V>I | No |
ClinGen TOPMed |
|
|
rs201850079 CA297682712 |
560 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 561 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923329 rs758212729 |
561 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758212729 CA402107945 COSM987331 |
561 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752667569 CA8923328 |
562 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA297682708 rs769134084 |
565 | N>D | No |
ClinGen Ensembl |
|
|
rs766437502 CA8923327 |
565 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA8923326 rs752473363 |
566 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs752473363 CA297682706 |
566 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1291530759 CA402107865 |
568 | N>T | No |
ClinGen gnomAD |
|
|
CA297682698 rs201217518 |
569 | N>D | No |
ClinGen Ensembl |
|
|
rs1215813174 CA402107849 |
569 | N>S | No |
ClinGen gnomAD |
|
|
CA8923325 rs750664667 |
570 | I>M | No |
ClinGen ExAC |
|
|
rs1228402305 CA402107839 |
570 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 572 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs962844318 CA297682662 |
573 | A>T | No |
ClinGen gnomAD |
|
|
rs762302781 CA8923323 |
574 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979919738 CA297682624 |
575 | F>L | No |
ClinGen Ensembl |
|
|
CA402107774 rs1175255093 |
575 | F>Y | No |
ClinGen TOPMed |
|
|
rs1395482543 CA402107758 |
577 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 579 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774787740 CA8923322 |
580 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769297692 CA8923321 |
580 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA402107654 rs1427781975 |
583 | P>L | No |
ClinGen gnomAD |
|
|
rs1194624307 CA402107637 |
585 | M>I | No |
ClinGen gnomAD |
|
|
CA297680311 rs112738243 |
586 | S>G | No |
ClinGen Ensembl |
|
|
rs763345128 CA8923301 |
588 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8923300 rs775910155 |
588 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA8923299 rs770284983 |
589 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA297680250 rs199705934 |
590 | T>A | No |
ClinGen gnomAD |
|
|
rs201191002 CA402107611 |
590 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM183543 rs201191002 CA8923298 |
590 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200380794 CA297680238 |
593 | I>F | No |
ClinGen Ensembl |
|
|
rs199833554 CA8923296 |
594 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 597 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923295 rs201775968 |
601 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8923294 rs777374626 |
602 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 603 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411707891 CA402107522 |
604 | Q>K | No |
ClinGen gnomAD |
|
|
CA297680176 rs201427390 |
610 | A>T | No |
ClinGen Ensembl |
|
|
CA402107475 rs1440803773 |
610 | A>V | No |
ClinGen TOPMed |
|
|
rs1288362921 CA402107463 |
612 | T>N | No |
ClinGen gnomAD |
|
|
rs750540712 CA8923289 COSM159891 |
614 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 615 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923287 rs757404285 |
616 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs781477117 CA402107438 |
616 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781477117 CA8923288 |
616 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1422448817 CA402107429 |
617 | D>E | No |
ClinGen TOPMed |
|
|
CA297680157 rs765968480 |
618 | P>S | No |
ClinGen Ensembl |
|
|
rs1463744997 CA402107422 |
619 | N>H | No |
ClinGen TOPMed |
|
|
CA297680149 rs928874934 |
621 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1260513378 CA402107398 |
622 | N>S | No |
ClinGen gnomAD |
|
|
rs758709494 CA8923284 |
623 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923283 rs753064228 |
628 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17853640 CA297680098 |
629 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 634 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345401959 CA402107313 |
635 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 636 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 636 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 636 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923281 rs760095602 |
640 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 641 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291687217 CA402107270 |
641 | L>V | No |
ClinGen TOPMed |
|
|
rs777119036 CA8923280 |
642 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8923279 rs199678478 |
643 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA402107251 rs1284016891 |
644 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1599010878 CA402107255 RCV000996659 |
644 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA297680040 rs751295637 |
646 | V>L | No |
ClinGen Ensembl |
|
|
rs760159166 CA8923278 |
647 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1567950067 CA402107233 |
648 | I>L | No |
ClinGen Ensembl |
|
|
rs946014808 CA297680016 |
655 | T>S | No |
ClinGen gnomAD |
|
|
CA402107170 rs1374084310 |
656 | R>Q | No |
ClinGen gnomAD |
|
|
CA297680006 rs200324494 |
656 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394668941 CA402107135 |
660 | D>N | No |
ClinGen gnomAD |
|
|
CA8923261 rs202052912 |
663 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202052912 CA8923260 |
663 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 664 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567949845 CA402107100 |
665 | N>T | No |
ClinGen Ensembl |
|
|
rs1418219005 CA402107066 |
669 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA402107073 rs1182299572 |
669 | K>Q | No |
ClinGen gnomAD |
|
|
CA8923258 rs767093257 |
671 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs570047207 CA8923257 |
672 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs151218256 CA8923256 |
672 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1273934223 CA402107036 |
674 | G>D | No |
ClinGen gnomAD |
|
|
CA8923254 rs199984052 |
676 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402107010 rs1240227564 |
678 | V>F | No |
ClinGen gnomAD |
|
|
CA8923252 rs201490302 |
678 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747090043 CA8923251 |
679 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 680 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202149391 CA297679478 |
681 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 682 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402106981 rs1367227912 |
683 | T>A | No |
ClinGen gnomAD |
|
|
CA402106963 rs1371255423 |
685 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA297679456 rs201030549 |
686 | G>D | No |
ClinGen Ensembl |
|
|
CA297679449 rs199907069 |
687 | N>D | No |
ClinGen Ensembl |
|
|
rs377497277 CA8923248 |
687 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377497277 CA402106955 |
687 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444982512 CA402106946 |
688 | P>L | No |
ClinGen TOPMed |
|
|
rs200886402 CA297679444 |
691 | S>* | No |
ClinGen Ensembl |
|
|
CA297679448 rs202027058 |
691 | S>T | No |
ClinGen gnomAD |
|
|
CA402106904 rs1452947996 |
695 | I>T | No |
ClinGen gnomAD |
|
|
CA8923247 rs778982228 |
695 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs755360931 CA8923246 |
696 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA8923245 rs754165315 |
697 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8923243 rs146657229 COSM1200445 |
697 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs146657229 CA8923244 |
697 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402106893 rs767117514 |
698 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923241 rs767117514 |
698 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA297679419 rs1027567929 |
700 | V>F | No |
ClinGen gnomAD |
|
|
CA402106880 rs1027567929 |
700 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 702 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402106850 rs1206310024 |
704 | D>N | No |
ClinGen gnomAD |
|
|
rs763789703 CA8923238 |
704 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs775358499 CA297679404 |
706 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201333291 COSM1630541 CA8923237 |
706 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8923235 rs200558954 |
707 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1176600992 CA402106817 |
709 | C>G | No |
ClinGen gnomAD |
|
|
rs1318395524 CA402106800 |
711 | D>E | No |
ClinGen gnomAD |
|
|
rs370864272 CA8923233 |
711 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 711 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923232 rs772245129 |
712 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8923231 rs199712566 |
713 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402106793 rs199712566 |
713 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297679362 rs902275105 |
715 | I>S | No |
ClinGen Ensembl |
|
|
CA402106776 rs902275105 |
715 | I>T | No |
ClinGen Ensembl |
|
|
rs201543789 CA8923229 |
717 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201543789 CA402106764 |
717 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1435057861 CA402106767 |
717 | G>S | No |
ClinGen gnomAD |
|
|
rs201543789 CA8923230 |
717 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923228 rs140836073 COSM1388190 |
718 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs547585102 CA8923226 |
720 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 721 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923225 rs750975099 |
722 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781525713 CA8923224 |
722 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs151110746 CA8923222 |
723 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763843213 CA8923221 |
724 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA402106726 rs1439874798 |
725 | I>V | No |
ClinGen gnomAD |
|
|
rs1237046474 CA402106716 |
726 | I>T | No |
ClinGen gnomAD |
|
|
rs1280044418 CA402106706 |
728 | I>V | No |
ClinGen gnomAD |
|
|
rs1231706166 CA402106700 |
729 | L>M | No |
ClinGen gnomAD |
|
|
CA402106685 rs1599010219 COSM1189664 |
731 | C>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA402106677 rs1270313904 |
732 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8923220 rs762635467 |
732 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs752394774 CA8923219 |
733 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs765163872 CA8923218 |
733 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA402106432 rs1471322766 |
739 | V>G | No |
ClinGen gnomAD |
|
|
CA402106437 rs753513462 CA8923198 |
739 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8923197 rs534039382 |
741 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 741 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA297677746 rs943756159 |
742 | F>S | No |
ClinGen gnomAD |
|
|
CA8923196 rs760591904 |
743 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA402106382 rs1188062661 |
744 | V>I | No |
ClinGen TOPMed |
|
|
CA402106371 rs1443969148 |
745 | W>L | No |
ClinGen TOPMed |
|
|
CA297677732 rs201266897 |
746 | M>T | No |
ClinGen Ensembl |
|
|
CA402106342 rs1377836480 |
747 | K>E | No |
ClinGen gnomAD |
|
|
CA8923194 COSM3937714 rs199937130 |
748 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8923193 COSM987327 rs762994164 |
748 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762994164 CA402106324 |
748 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373060189 CA8923191 |
749 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775708988 CA8923192 COSM987326 |
749 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs879079313 CA297677699 |
750 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8923190 rs746246698 |
751 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923189 rs771312999 |
753 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747560192 COSM1247826 CA8923187 |
753 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8923188 rs771312999 |
753 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923186 rs778402718 |
755 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs747621903 CA8923184 |
756 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs142999960 CA8923183 |
757 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA297677587 rs867263308 |
760 | I>V | No |
ClinGen Ensembl |
|
|
rs753519915 CA8923181 |
762 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766157846 CA8923180 |
768 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA402106106 rs1467594732 |
780 | E>G | No |
ClinGen gnomAD |
|
|
CA297677570 rs929460404 |
782 | D>N | No |
ClinGen Ensembl |
|
|
CA402104483 rs1419936790 |
784 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 788 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA402104386 rs1567939481 |
789 | Q>P | No |
ClinGen Ensembl |
|
|
rs1037976434 CA297662296 |
794 | D>N | No |
ClinGen Ensembl |
|
|
CA8923159 rs150933422 |
795 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1277458415 CA402104278 |
796 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 798 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771507507 CA297662280 |
799 | D>G | No |
ClinGen Ensembl |
|
|
CA8923156 rs375175765 |
801 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA402104179 rs1212946496 |
802 | K>R | No |
ClinGen TOPMed |
|
|
CA297662274 rs1001078493 |
804 | V>M | No |
ClinGen TOPMed |
|
|
rs759639016 CA8923154 |
808 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA402104105 rs1313840328 |
808 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8923153 rs754029821 |
809 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA402104059 rs1357019333 |
810 | D>Y | No |
ClinGen gnomAD |
|
|
rs1598991960 CA402104015 |
812 | R>S | No |
ClinGen Ensembl |
|
|
CA297662272 rs267605138 |
814 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8923152 rs199674217 |
814 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761127424 CA297662266 |
815 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA402103975 rs1362233326 |
815 | H>Y | No |
ClinGen TOPMed |
|
|
CA8923150 COSM1388188 rs773655778 |
816 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1476143861 CA402103943 |
817 | E>K | No |
ClinGen gnomAD |
|
|
CA297662256 rs200230866 |
818 | P>L | No |
ClinGen TOPMed |
|
|
CA402103920 rs1264092983 |
818 | P>S | No |
ClinGen Ensembl |
|
|
rs774895186 CA8923147 |
819 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 819 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768097198 CA8923146 |
821 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779600795 CA8923144 |
822 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8923142 rs199638301 |
823 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277644544 CA402103876 |
825 | A>S | No |
ClinGen gnomAD |
|
|
CA402103878 rs1277644544 |
825 | A>T | No |
ClinGen gnomAD |
|
|
rs1217385337 CA402103873 |
825 | A>V | No |
ClinGen gnomAD |
|
|
rs1302337851 CA402103849 |
829 | P>L | No |
ClinGen TOPMed |
|
|
CA402103850 rs1294310150 |
829 | P>S | No |
ClinGen gnomAD |
|
|
CA402103839 rs1567939337 |
831 | D>H | No |
ClinGen Ensembl |
|
|
CA402103827 rs1376520105 |
832 | I>M | No |
ClinGen gnomAD |
|
|
rs200450136 CA297662194 |
832 | I>V | No |
ClinGen Ensembl |
|
|
rs202236593 CA297662189 |
833 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 834 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200254151 CA8923138 |
837 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293562698 CA402101641 |
842 | A>T | No |
ClinGen TOPMed |
|
|
rs370333144 CA8923113 |
842 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA402101627 rs1354823437 |
843 | A>S | No |
ClinGen gnomAD |
|
|
rs957126594 CA297653128 |
845 | N>K | No |
ClinGen Ensembl |
|
|
CA8923110 VAR_028258 rs2289664 |
845 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs751881258 CA8923111 |
845 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200498784 CA297653125 |
847 | P>H | No |
ClinGen Ensembl |
|
|
rs372122053 CA297653118 |
848 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 849 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878963425 CA297653117 |
850 | P>S | No |
ClinGen TOPMed |
|
|
rs1312662447 CA402101518 |
852 | Y>S | No |
ClinGen TOPMed |
|
|
CA297653115 rs201844490 |
859 | D>H | No |
ClinGen Ensembl |
|
|
CA8923107 rs764766275 |
863 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs200803866 CA8923106 |
864 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA297653084 rs776296541 |
866 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8923105 rs776296541 |
866 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA297653082 rs896948558 |
867 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA402101304 rs1598982439 |
869 | S>A | No |
ClinGen Ensembl |
|
|
rs1379928255 CA402101255 |
873 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8923102 rs773118735 |
874 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 876 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923101 rs771762304 |
877 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA297653052 rs138164198 |
877 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138164198 CA8923100 |
877 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198222564 CA402101177 |
879 | G>D | No |
ClinGen gnomAD |
|
|
CA8923099 rs199787442 |
880 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371258872 CA297653051 |
880 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA402101148 rs756289185 |
881 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs879088485 CA297653014 |
881 | E>K | No |
ClinGen TOPMed |
|
|
CA8923097 rs377612781 |
883 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923096 rs377612781 |
883 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488202424 CA402101110 |
884 | Y>C | No |
ClinGen gnomAD |
|
|
CA402101047 rs201334347 |
888 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199657884 CA297652979 |
889 | D>G | No |
ClinGen gnomAD |
|
|
rs200373316 CA8923094 |
889 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8923093 rs764584049 |
891 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs758658207 CA8923092 |
892 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA402100992 rs1328130862 |
892 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM385442 rs201294768 CA297652963 |
893 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
|
CA8923091 rs753251005 |
893 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 895 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8923088 rs776060409 |
900 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA297652930 rs200246655 |
904 | G>D | No |
ClinGen Ensembl |
|
|
CA8923087 rs765791790 |
905 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 906 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with P19022
Functions
24 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| apical part of cell | The region of a polarized cell that forms a tip or is distal to a base. For example, in a polarized epithelial cell, the apical region has an exposed surface and lies opposite to the basal lamina that separates the epithelium from other tissue. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| apicolateral plasma membrane | The apical end of the lateral plasma membrane of epithelial cells. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| catenin complex | Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| fascia adherens | A cell-cell junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighbouring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of postsynaptic specialization membrane | The component of the postsynaptic specialization membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of presynaptic active zone membrane | The component of the presynaptic active zone membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| plasma membrane raft | A membrane raft that is part of the plasma membrane. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| alpha-catenin binding | Binding to catenin complex alpha subunit. |
| beta-catenin binding | Binding to a catenin beta subunit. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| gamma-catenin binding | Binding to catenin complex gamma subunit. |
| identical protein binding | Binding to an identical protein or proteins. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
32 GO annotations of biological process
| Name | Definition |
|---|---|
| blood vessel morphogenesis | The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. |
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| brain morphogenesis | The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules | The attachment of one cell to another cell via adhesion molecules that require the presence of calcium for the interaction. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| cell-cell adhesion mediated by cadherin | The attachment of one cell to another cell via a cadherin, transmembrane proteins having repeating extracellular calcium ion binding domains. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| cell-cell junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between cells. |
| cerebral cortex development | The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. |
| detection of muscle stretch | The series of events by which a muscle stretch stimulus is received by a cell and converted into a molecular signal. |
| glial cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a glial cell. |
| heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules | The attachment of an adhesion molecule in one cell to a nonidentical adhesion molecule in an adjacent cell. |
| homeostasis of number of cells | Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| mesenchymal cell migration | The orderly movement of a mesenchymal cell from one site to another, often during the development of a multicellular organism. |
| negative regulation of canonical Wnt signaling pathway | Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
| neural crest cell development | The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. |
| neuroepithelial cell differentiation | The process in which epiblast cells acquire specialized features of neuroepithelial cells. |
| neuroligin clustering involved in postsynaptic membrane assembly | The receptor clustering process involved in assembly of the postsynaptic membrane in which neuroligins are localized to distinct domains in the cell membrane. Neuroligins are neuronal cell surface proteins on the postsynaptic membrane that mediate synapse formation between neurons. |
| neuronal stem cell population maintenance | Any process in by an organism or tissue maintains a population of neuronal stem cells. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of synaptic vesicle clustering | Any process that activates or increases the frequency, rate or extent of synaptic vesicle clustering. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| radial glial cell differentiation | The process in which neuroepithelial cells of the neural tube give rise to radial glial cells, specialized bipotential progenitors cells of the brain. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| regulation of axonogenesis | Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. |
| regulation of oligodendrocyte progenitor proliferation | Any process that modulates the frequency, rate or extent of oligodendrocyte progenitor proliferation. |
| regulation of postsynaptic density protein 95 clustering | Any process that modulates the frequency, rate or extent of postsynaptic density protein 95 clustering. |
| regulation of synaptic transmission, glutamatergic | Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| striated muscle cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. |
| synapse assembly | The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional). |
| type B pancreatic cell development | The process whose specific outcome is the progression of a type B pancreatic cell over time, from its formation to the mature structure. A type B pancreatic cell is a cell located towards center of the islets of Langerhans that secretes insulin. |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCRIAGALRT | LLPLLAALLQ | ASVEASGEIA | LCKTGFPEDV | YSAVLSKDVH | EGQPLLNVKF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SNCNGKRKVQ | YESSEPADFK | VDEDGMVYAV | RSFPLSSEHA | KFLIYAQDKE | TQEKWQVAVK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSLKPTLTEE | SVKESAEVEE | IVFPRQFSKH | SGHLQRQKRD | WVIPPINLPE | NSRGPFPQEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VRIRSDRDKN | LSLRYSVTGP | GADQPPTGIF | IINPISGQLS | VTKPLDREQI | ARFHLRAHAV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DINGNQVENP | IDIVINVIDM | NDNRPEFLHQ | VWNGTVPEGS | KPGTYVMTVT | AIDADDPNAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NGMLRYRIVS | QAPSTPSPNM | FTINNETGDI | ITVAAGLDRE | KVQQYTLIIQ | ATDMEGNPTY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLSNTATAVI | TVTDVNDNPP | EFTAMTFYGE | VPENRVDIIV | ANLTVTDKDQ | PHTPAWNAVY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RISGGDPTGR | FAIQTDPNSN | DGLVTVVKPI | DFETNRMFVL | TVAAENQVPL | AKGIQHPPQS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TATVSVTVID | VNENPYFAPN | PKIIRQEEGL | HAGTMLTTFT | AQDPDRYMQQ | NIRYTKLSDP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ANWLKIDPVN | GQITTIAVLD | RESPNVKNNI | YNATFLASDN | GIPPMSGTGT | LQIYLLDIND |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NAPQVLPQEA | ETCETPDPNS | INITALDYDI | DPNAGPFAFD | LPLSPVTIKR | NWTITRLNGD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FAQLNLKIKF | LEAGIYEVPI | IITDSGNPPK | SNISILRVKV | CQCDSNGDCT | DVDRIVGAGL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GTGAIIAILL | CIIILLILVL | MFVVWMKRRD | KERQAKQLLI | DPEDDVRDNI | LKYDEEGGGE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EDQDYDLSQL | QQPDTVEPDA | IKPVGIRRMD | ERPIHAEPQY | PVRSAAPHPG | DIGDFINEGL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KAADNDPTAP | PYDSLLVFDY | EGSGSTAGSL | SSLNSSSSGG | EQDYDYLNDW | GPRFKKLADM |
| YGGGDD |