Q6ZSG2
PR
Gene name |
INSYN2A |
Protein name |
Inhibitory synaptic factor 2A |
Names |
InSyn2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:642938 |
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 Q6ZSG2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZSG2-F1 | Predicted | AlphaFoldDB |
448 variants for Q6ZSG2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1258668992 CA378702579 |
5 | D>G | No |
ClinGen gnomAD |
|
|
CA378702564 rs1252251747 |
6 | T>A | No |
ClinGen gnomAD |
|
|
CA5743227 rs762119851 |
6 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA378702523 rs763089897 |
7 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378702528 rs146174669 |
7 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763089897 CA5743224 |
7 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146174669 CA215447550 |
7 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs775627557 CA5743223 |
9 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1564872633 CA378702491 |
9 | C>Y | No |
ClinGen Ensembl |
|
|
rs1227540826 CA378702465 |
10 | I>M | No |
ClinGen gnomAD |
|
|
CA378702473 rs1228423101 |
10 | I>T | No |
ClinGen gnomAD |
|
|
rs939722603 CA215447545 |
12 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA378702437 rs746933569 |
13 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs746933569 CA5743221 |
13 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs772004736 CA5743218 |
14 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5743215 rs541317255 |
15 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1644590 CA5743216 rs371707213 |
15 | E>K | NS [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA378702353 rs1472859656 |
16 | S>N | No |
ClinGen gnomAD |
|
|
rs1370658020 CA378702333 |
17 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs138559550 CA5743214 |
18 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378702292 rs1589787589 |
19 | E>D | No |
ClinGen Ensembl |
|
|
CA215447529 rs915757581 |
19 | E>K | No |
ClinGen Ensembl |
|
|
rs529298057 CA5743213 |
20 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378702271 rs755543710 |
20 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755543710 CA5743212 |
20 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378702276 rs529298057 |
20 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5743209 rs762172825 |
21 | A>T | Variant assessed as Somatic; 0.0001399 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1223263750 CA378702257 |
22 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 22 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358589416 CA378702233 |
24 | L>P | No |
ClinGen gnomAD |
|
|
rs76646118 CA5743207 |
25 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA215447523 rs76646118 |
25 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5743203 rs759475811 |
27 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5743201 COSM1745693 rs772129249 |
28 | M>I | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA378702195 rs773204442 |
28 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA5743202 rs773204442 |
28 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1421317950 CA378702184 |
29 | K>Q | No |
ClinGen TOPMed |
|
|
rs753847704 CA5743199 |
30 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
CA378702172 rs1307055703 |
30 | Y>F | No |
ClinGen gnomAD |
|
|
CA5743200 rs748011955 |
30 | Y>H | No |
ClinGen ExAC |
|
|
rs150536495 CA215447514 |
31 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA378702166 rs1392270112 |
31 | A>V | No |
ClinGen gnomAD |
|
|
CA5743197 rs768460062 |
32 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5743195 rs372345493 |
33 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 34 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5743192 rs781715631 |
35 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs770696831 CA5743193 |
35 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs757749817 CA5743191 |
36 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA378702140 rs1251294324 |
36 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1265439643 CA378702118 |
39 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 40 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148136993 CA5743188 |
41 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM3414813 rs749004305 CA5743189 |
41 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1229950625 CA378702102 |
42 | N>D | No |
ClinGen gnomAD |
|
|
CA378702068 rs368666491 |
47 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368666491 CA5743187 |
47 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743185 rs201704187 |
48 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765309721 CA5743186 COSM916003 |
48 | R>W | Variant assessed as Somatic; 4.623e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1589786498 CA378702051 |
50 | K>Q | No |
ClinGen Ensembl |
|
|
rs1332303456 CA378702040 |
51 | D>G | No |
ClinGen gnomAD |
|
|
rs776558943 CA5743184 |
53 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA378702005 rs767609347 |
53 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743182 rs538792856 |
54 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA215447485 rs952293347 |
55 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1486185769 CA378701983 |
56 | Q>* | No |
ClinGen TOPMed |
|
|
CA5743181 rs774387247 |
58 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759084320 CA215447482 |
58 | E>K | No |
ClinGen Ensembl |
|
|
rs1411695943 CA378701928 |
59 | Q>H | No |
ClinGen gnomAD |
|
|
rs768598681 CA5743180 |
60 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs199952144 CA215447475 |
61 | D>E | No |
ClinGen Ensembl |
|
|
CA5743179 rs748982319 |
62 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378701891 rs748982319 |
62 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378701889 rs1564872116 |
63 | Q>E | No |
ClinGen Ensembl |
|
|
rs775216075 CA5743178 |
63 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1198204351 CA378701861 |
65 | S>T | No |
ClinGen gnomAD |
|
|
rs745443698 CA5743176 COSM916002 |
66 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5743177 rs769329853 |
66 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs745443698 CA378701841 |
66 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA5743173 rs747545234 |
67 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA378701813 rs1475961081 |
68 | Q>* | No |
ClinGen TOPMed |
|
|
rs1165222155 CA378701784 |
69 | L>R | No |
ClinGen TOPMed |
|
|
CA215447460 rs375404920 |
70 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375404920 CA5743171 |
70 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs889229055 CA215447463 CA378701780 |
70 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372715738 CA5743168 |
73 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs143780805 CA5743169 |
73 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378701699 rs1323057740 |
74 | E>K | No |
ClinGen gnomAD |
|
|
CA378701697 rs1323057740 |
74 | E>Q | No |
ClinGen gnomAD |
|
|
CA5743166 rs367840893 |
75 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760783594 CA5743165 |
77 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs200815248 CA5743164 |
78 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5743162 rs762876030 |
81 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743161 COSM138789 rs775136991 |
82 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769537771 CA5743160 |
83 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5743159 rs745480635 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA378701534 rs1447640168 |
84 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs549319983 CA5743158 |
85 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141830486 CA5743157 |
85 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743156 rs746449530 |
88 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA378701444 rs1260706308 |
88 | M>T | No |
ClinGen TOPMed |
|
|
rs778319223 CA5743155 |
90 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA378701414 rs1486536927 |
90 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA378701405 rs1188138652 |
91 | P>H | No |
ClinGen TOPMed |
|
|
CA215447439 rs928320163 |
91 | P>S | No |
ClinGen Ensembl |
|
|
rs748593127 CA5743153 |
92 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5743152 rs779113272 COSM70708 |
93 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA378701379 rs779113272 |
93 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755325636 CA5743151 COSM1346707 |
93 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5743149 rs780369218 |
94 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 95 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5743148 rs756270808 |
97 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378701321 rs756270808 |
97 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750530104 CA5743147 |
98 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5743146 rs762779861 |
98 | N>K | No |
ClinGen ExAC gnomAD |
|
|
COSM203655 rs139369079 CA5743144 |
99 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1171265832 CA378701272 |
100 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA215447409 rs989910874 |
104 | G>S | No |
ClinGen Ensembl |
|
|
CA5743142 COSM3356088 rs759326307 |
105 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5743141 rs776269777 |
106 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs770566069 CA5743140 |
108 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743138 rs772686532 |
110 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378701101 rs1186765008 |
111 | L>F | No |
ClinGen gnomAD |
|
|
rs1564871616 CA378701071 |
112 | K>N | No |
ClinGen Ensembl |
|
|
rs748631088 CA5743136 |
112 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA215447390 rs1007997134 |
113 | K>N | No |
ClinGen gnomAD |
|
|
CA378701012 rs1190295068 |
115 | Y>S | No |
ClinGen gnomAD |
|
|
CA378700991 rs117242435 |
117 | T>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs117242435 CA215447387 |
117 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs117242435 CA215447384 |
117 | T>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA378700948 rs1410637866 |
121 | D>E | No |
ClinGen gnomAD |
|
|
rs756393627 CA5743131 |
122 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756393627 CA5743132 |
122 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370769092 CA5743130 COSM1346705 |
122 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781103257 CA5743129 |
123 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA378700917 TCGA novel rs1350543369 |
124 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA378700904 rs1440300081 |
125 | G>E | No |
ClinGen TOPMed |
|
|
CA5743128 rs757321590 |
125 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5743127 rs367902185 |
126 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743125 rs759392442 |
127 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1178383333 CA378700842 |
130 | L>F | No |
ClinGen Ensembl |
|
|
CA5743124 rs753615944 |
131 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378700823 rs753615944 |
131 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472808791 CA378700819 |
132 | A>T | No |
ClinGen gnomAD |
|
|
rs1176317750 CA378700777 |
135 | P>H | No |
ClinGen TOPMed |
|
|
rs1564871448 CA378700764 |
136 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 136 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940714348 CA215447371 |
138 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1179576717 CA378700722 |
139 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5743123 rs77083569 |
140 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1246846416 CA378700702 |
141 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5743122 rs760287894 |
142 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743121 rs772878195 |
146 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_042679 CA5743120 rs11594560 |
147 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378700573 rs1331672769 |
150 | K>E | No |
ClinGen gnomAD |
|
|
rs150007430 CA5743116 |
152 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150007430 CA5743115 |
152 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295412166 CA378700502 |
154 | G>V | No |
ClinGen gnomAD |
|
|
CA5743112 rs781426542 |
156 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743113 rs746126759 |
156 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA378700479 rs1325155426 |
158 | E>K | No |
ClinGen gnomAD |
|
|
CA378700471 rs1457514779 |
159 | A>T | No |
ClinGen gnomAD |
|
|
CA5743110 rs374342932 |
160 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743111 rs757299305 |
160 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378700461 rs1196189442 |
161 | P>S | No |
ClinGen TOPMed |
|
|
rs200216671 CA215447332 |
162 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5743107 rs753671967 |
163 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs370158282 CA5743108 |
163 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755851502 CA5743105 |
164 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743104 COSM465420 rs551807342 |
164 | A>V | kidney Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5743099 rs202008548 |
166 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743100 rs369739654 |
166 | R>W | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
| TCGA novel | 167 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1589783264 CA378700428 |
167 | V>G | No |
ClinGen Ensembl |
|
|
CA5743098 rs764748949 |
167 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215447298 rs529533671 |
169 | K>E | No |
ClinGen 1000Genomes |
|
|
CA378700412 rs868339889 |
170 | T>A | No |
ClinGen gnomAD |
|
|
CA215447295 rs868339889 |
170 | T>P | No |
ClinGen gnomAD |
|
|
rs1054618287 CA215447293 |
171 | T>A | No |
ClinGen Ensembl |
|
|
rs376988297 CA5743094 |
173 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743095 rs770306176 |
173 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743096 rs770306176 |
173 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229326253 CA378700384 |
174 | V>L | No |
ClinGen TOPMed |
|
|
CA378700365 rs1278664256 |
175 | F>L | No |
ClinGen TOPMed |
|
|
rs184591766 CA5743093 |
175 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA215447280 rs373570832 |
177 | S>P | No |
ClinGen ESP TOPMed |
|
|
CA5743092 rs549935946 |
178 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549935946 CA5743091 |
178 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs935714014 CA215447274 |
179 | Q>E | No |
ClinGen gnomAD |
|
|
CA378700296 CA215447264 rs752031911 |
181 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777876080 CA5743090 |
181 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs924454038 CA215447271 |
181 | M>V | No |
ClinGen Ensembl |
|
|
CA378700291 rs1189759049 |
182 | N>D | No |
ClinGen gnomAD |
|
|
CA378700238 rs1209696225 |
186 | Q>H | No |
ClinGen TOPMed |
|
|
CA378700230 rs1265877542 |
187 | P>L | No |
ClinGen TOPMed |
|
|
CA378700217 rs1246539932 |
188 | L>W | No |
ClinGen gnomAD |
|
|
CA378700206 rs1208222231 |
189 | G>A | No |
ClinGen TOPMed |
|
|
CA5743088 rs749242714 |
189 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5743087 rs779906190 |
190 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA378700203 rs1194814788 |
190 | V>I | No |
ClinGen TOPMed |
|
|
CA5743086 rs755904233 |
191 | N>K | No |
ClinGen ExAC |
|
|
CA378700182 rs1423396236 |
192 | C>R | No |
ClinGen TOPMed |
|
|
CA378700170 rs1257913156 |
193 | T>P | No |
ClinGen gnomAD |
|
|
rs750232225 CA5743085 |
194 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1347228848 CA378700147 |
195 | P>S | No |
ClinGen gnomAD |
|
|
rs1298488527 CA378700137 |
196 | C>Y | No |
ClinGen gnomAD |
|
|
CA5743084 rs531727184 |
199 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378700098 rs531727184 |
199 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378700102 rs1229018722 |
199 | P>S | No |
ClinGen gnomAD |
|
|
rs1381381407 CA378700089 |
200 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5743082 rs143176564 |
201 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378700058 rs1432540885 |
203 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs901091271 CA215447248 |
204 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1589782426 CA378700050 |
204 | Y>N | No |
ClinGen Ensembl |
|
|
CA5743080 rs762505186 |
205 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201790205 CA5743078 |
208 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294747811 CA378700009 |
208 | A>T | No |
ClinGen TOPMed |
|
|
rs201790205 CA5743077 |
208 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771096143 CA5743075 |
210 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1049642667 CA215447231 |
212 | S>A | No |
ClinGen TOPMed |
|
|
rs375773085 CA378699962 |
214 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375773085 CA5743072 |
214 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773370941 CA5743073 |
214 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743071 rs748154370 |
216 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1207325945 CA378699948 |
217 | S>A | No |
ClinGen gnomAD |
|
|
rs780028933 CA5743070 |
217 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780028933 CA378699946 |
217 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5743068 rs745704190 |
218 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs756966142 CA5743067 |
219 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756966142 CA5743066 |
219 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142627987 CA5743064 |
221 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757987233 CA5743063 |
222 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA378699918 rs1354385963 |
222 | Y>H | No |
ClinGen gnomAD |
|
|
rs765894265 CA5743061 |
225 | L>I | No |
ClinGen ExAC |
|
|
rs142182142 CA5743059 CA5743058 |
226 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760887375 CA5743057 |
227 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743056 rs773425911 |
228 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA378699879 rs1163013458 |
229 | K>E | No |
ClinGen gnomAD |
|
|
CA5743053 rs79463082 |
232 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79463082 CA5743054 |
232 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5743055 rs372417174 |
232 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139810222 CA5743051 |
233 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378699838 rs1337034297 |
235 | P>Q | No |
ClinGen TOPMed |
|
|
CA5743049 rs745852102 |
238 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5743048 rs371362388 |
239 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1357012509 CA378699810 |
239 | E>V | No |
ClinGen gnomAD |
|
|
rs1255400493 CA378699804 |
240 | P>L | No |
ClinGen gnomAD |
|
|
rs201652122 CA5743046 |
241 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1333893539 CA378699797 |
241 | A>V | No |
ClinGen gnomAD |
|
|
CA215447176 rs866079227 |
243 | P>S | No |
ClinGen gnomAD |
|
|
rs1229913147 CA378699777 |
245 | L>F | No |
ClinGen gnomAD |
|
|
CA378699759 rs1327652267 |
248 | V>L | No |
ClinGen gnomAD |
|
|
CA5743045 rs777637245 |
249 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3367955 rs377391223 CA5743044 |
251 | T>M | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA378699721 rs1437800527 |
253 | V>A | No |
ClinGen TOPMed |
|
|
rs1271709343 CA378699725 |
253 | V>I | No |
ClinGen gnomAD |
|
|
rs373167144 CA5743039 |
256 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378699702 rs1465183325 |
257 | Y>H | No |
ClinGen TOPMed |
|
|
CA5743038 rs761165368 |
257 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs767778753 CA5743036 |
258 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762884651 CA5743032 |
259 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs565955024 CA5743034 |
259 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565955024 CA5743033 |
259 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs911695629 CA215447139 |
260 | A>V | No |
ClinGen Ensembl |
|
|
rs1004876591 CA378699675 |
262 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1004876591 CA215447132 |
262 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752623435 CA5743029 |
265 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA378699654 rs1348048736 |
265 | A>S | No |
ClinGen gnomAD |
|
|
rs752623435 CA378699653 |
265 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1233262668 CA378699650 |
266 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771951257 CA5743027 |
267 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301878478 CA378699645 |
267 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA378699631 rs1330724929 |
269 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1198064985 CA378699615 |
271 | S>* | No |
ClinGen TOPMed |
|
|
CA378699600 rs1410329087 |
273 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs754517108 CA5743024 |
274 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173390815 CA378699589 |
275 | A>V | No |
ClinGen gnomAD |
|
|
rs143897472 CA215447117 |
276 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743023 rs143897472 |
276 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378699585 rs1393409876 |
276 | A>V | No |
ClinGen gnomAD |
|
|
CA5743022 rs780666441 |
278 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA378699573 rs1453764131 |
278 | Q>R | No |
ClinGen gnomAD |
|
|
rs376501105 CA378699568 |
279 | W>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376501105 CA5743021 |
279 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378699551 rs547642648 |
281 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547642648 CA5743020 |
281 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371917458 CA5743019 |
283 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378699538 rs371917458 |
283 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA215447106 rs973403565 |
284 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs973403565 CA215447103 |
284 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751794894 CA5743017 |
285 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215447100 rs751794894 |
285 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149479141 CA5743015 |
287 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743014 rs149479141 |
287 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743012 rs376061425 |
288 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743013 rs766379230 |
288 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743011 rs773235819 |
289 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5743009 rs747882538 |
289 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378699497 rs1373675641 |
291 | A>P | No |
ClinGen gnomAD |
|
|
rs1564869991 CA378699493 |
291 | A>V | No |
ClinGen Ensembl |
|
|
rs137995652 CA5743008 |
292 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5743006 rs748875288 |
293 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5743007 rs748875288 |
293 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 294 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5743004 rs200373232 |
295 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5743005 rs779403804 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM915998 CA5743002 CA215447076 rs781623674 |
296 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs1589779516 CA378699454 |
298 | Q>R | No |
ClinGen Ensembl |
|
|
rs150869481 CA215447062 |
299 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs958344442 CA215447070 |
299 | A>T | No |
ClinGen gnomAD |
|
|
rs150869481 COSM169124 CA5743000 |
299 | A>V | Variant assessed as Somatic; 5.631e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1589779404 CA378699447 |
300 | P>T | No |
ClinGen Ensembl |
|
|
CA5742998 rs531616927 |
301 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866018984 CA215447045 |
302 | E>K | No |
ClinGen Ensembl |
|
|
CA5742996 rs765252753 |
303 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA378699423 rs1285196920 |
304 | A>T | No |
ClinGen gnomAD |
|
|
CA378699419 rs1450672394 |
304 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1353741072 CA378699403 |
307 | C>S | No |
ClinGen gnomAD |
|
|
rs1434996683 CA378699400 |
307 | C>W | No |
ClinGen TOPMed |
|
|
rs1312508770 CA378699394 |
308 | S>L | No |
ClinGen gnomAD |
|
|
rs1372556959 CA378699390 |
309 | P>L | No |
ClinGen gnomAD |
|
|
CA378699391 rs1410435532 |
309 | P>S | No |
ClinGen gnomAD |
|
|
rs759630403 CA5742995 |
310 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759630403 CA378699383 |
310 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5742993 rs767554325 |
311 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418493745 CA378699377 |
311 | M>T | No |
ClinGen gnomAD |
|
|
rs1276538182 CA378699372 |
312 | Q>* | No |
ClinGen TOPMed |
|
|
CA5742992 rs201089083 |
313 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768391430 CA5742990 |
314 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5742991 rs768391430 |
314 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483094838 CA378699345 |
316 | P>L | No |
ClinGen gnomAD |
|
|
rs143223796 CA5742989 |
317 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377729347 CA5742986 |
319 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377729347 CA5742987 |
319 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235460391 CA378699321 |
320 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5742985 rs781714055 |
320 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1235460391 CA378699319 |
320 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771416390 CA5742984 |
322 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5742981 rs758739317 |
323 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA378699303 rs1412481351 |
323 | S>P | No |
ClinGen TOPMed |
|
|
rs758739317 CA5742982 |
323 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1174409541 CA378699298 |
324 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA378699293 rs1296568480 |
324 | Q>H | No |
ClinGen gnomAD |
|
|
CA5742979 rs779209910 |
325 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1589778394 CA378699277 |
327 | T>P | No |
ClinGen Ensembl |
|
|
rs755171732 CA5742978 |
328 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs767609478 CA5742976 |
329 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419469638 CA378699265 |
329 | P>S | No |
ClinGen TOPMed |
|
|
CA5742974 rs560549895 |
330 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1163732417 CA378699261 |
330 | G>R | No |
ClinGen gnomAD |
|
|
CA215446990 rs1037576344 |
337 | P>S | No |
ClinGen Ensembl |
|
|
CA5742972 rs762755076 |
338 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179499778 CA378699208 |
338 | T>K | No |
ClinGen gnomAD |
|
|
CA5742969 rs144141274 |
339 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA215446972 rs982182071 |
340 | V>A | No |
ClinGen TOPMed |
|
|
rs747492162 CA5742966 |
341 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs778283590 CA5742965 |
342 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772328385 CA5742964 |
343 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA215446962 rs904780259 |
347 | Q>P | No |
ClinGen TOPMed |
|
|
CA378699149 COSM915995 rs1223237561 |
348 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5742963 rs748541758 |
348 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755224910 CA5742961 |
350 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754009511 CA5742960 |
352 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5742958 COSM915994 rs143671561 |
353 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143671561 CA215446941 |
353 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378699065 rs1417993265 |
355 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 356 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA215446933 rs774263831 |
356 | V>I | No |
ClinGen Ensembl |
|
|
COSM2022197 CA5742955 rs368080041 |
357 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1252960838 CA378699014 |
359 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 362 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5742953 rs764920097 |
364 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs759159621 CA5742952 |
367 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA378698891 rs1259117503 |
367 | N>K | No |
ClinGen gnomAD |
|
|
rs1357706686 CA378698855 |
370 | S>G | No |
ClinGen TOPMed |
|
|
CA5742949 rs192681220 |
372 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368633234 CA378698746 |
382 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1368633234 CA378698747 |
382 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 382 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302599397 CA378698738 |
383 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 387 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378698672 rs1452661243 |
392 | H>R | No |
ClinGen gnomAD |
|
|
rs774822703 CA5742945 |
393 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5742946 rs769662326 |
393 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346877417 CA378698665 |
394 | E>K | No |
ClinGen TOPMed |
|
|
rs145769109 CA5742926 COSM275062 |
396 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA |
| TCGA novel | 397 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5742925 rs769158740 |
398 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5742923 rs775924953 |
399 | R>Q | No |
ClinGen ExAC |
|
|
rs749601173 CA5742924 |
399 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5742922 rs145407370 |
400 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5742919 rs757246326 |
405 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781301926 CA5742920 |
405 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1226349925 CA378697736 |
409 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 410 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376755065 CA378697698 |
412 | N>I | No |
ClinGen gnomAD |
|
|
CA215437448 rs376755065 |
412 | N>T | No |
ClinGen gnomAD |
|
| TCGA novel | 415 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778754733 CA5742917 |
416 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754834211 CA5742916 |
417 | I>N | No |
ClinGen ExAC TOPMed |
|
|
rs753617569 CA5742915 |
418 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs773054236 CA5742838 |
419 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747730124 CA5742835 |
423 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA378696836 rs1442748855 |
425 | K>R | No |
ClinGen gnomAD |
|
|
CA215426831 rs112916120 |
429 | D>G | No |
ClinGen Ensembl |
|
|
CA378696807 rs1184972985 |
429 | D>H | No |
ClinGen TOPMed |
|
|
rs1292557818 CA378696795 |
430 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 431 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431062952 CA378696789 |
431 | L>P | No |
ClinGen gnomAD |
|
|
CA5742833 rs768162499 |
433 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215426791 rs1005659885 |
434 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1161262868 CA378696720 |
436 | R>T | No |
ClinGen TOPMed |
|
|
CA5742831 rs528173288 |
437 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5742830 rs528173288 |
437 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378696698 rs1452951757 |
438 | L>F | No |
ClinGen gnomAD |
|
|
CA5742828 rs781443266 |
440 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5742827 rs146739741 |
441 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5742826 rs369230046 |
445 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA215426764 rs895983871 |
446 | V>D | No |
ClinGen Ensembl |
|
|
CA378696590 rs1215913061 |
446 | V>I | No |
ClinGen gnomAD |
|
|
CA5742824 rs763035367 |
448 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378696558 rs763035367 |
448 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215426759 rs58148253 |
448 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs58148253 CA5742825 |
448 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753834736 CA5742823 |
449 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA378696553 rs1225955292 |
449 | S>P | No |
ClinGen TOPMed |
|
|
rs1316880178 CA378696534 |
450 | P>H | No |
ClinGen TOPMed |
|
|
rs760593223 CA5742821 |
451 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5742820 rs773107227 |
453 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1295964175 CA378696503 |
453 | Q>P | No |
ClinGen gnomAD |
|
|
rs771856727 CA5742819 |
454 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773996830 CA5742817 |
458 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5742813 rs370011632 |
460 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374044414 CA5742815 |
460 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374044414 CA5742814 |
460 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542825513 CA5742812 |
462 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs951551494 CA215426702 |
462 | Q>L | No |
ClinGen TOPMed |
|
|
rs1220025443 CA378696364 |
464 | S>P | No |
ClinGen Ensembl |
|
|
rs1177882722 CA378696325 |
466 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 470 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378696274 rs1237133540 |
470 | K>T | No |
ClinGen gnomAD |
|
|
CA5742809 rs751747001 |
472 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378696217 rs1482207421 |
474 | W>L | No |
ClinGen gnomAD |
|
|
CA378696191 rs1156541439 |
477 | W>R | No |
ClinGen TOPMed |
|
|
rs1385400813 CA378696166 |
480 | L>Q | No |
ClinGen gnomAD |
No associated diseases with Q6ZSG2
No regional properties for Q6ZSG2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6ZSG2 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| inhibitory postsynaptic potential | A process that causes a temporary decrease in postsynaptic membrane potential due to the flow of negatively charged ions into the postsynaptic cell. The flow of ions that causes an IPSP is an inhibitory postsynaptic current (IPSC) and makes it more difficult for the neuron to fire an action potential. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVSKDTGKCI | LTTSESEVEP | AACLALEMKY | ALDPNRQIKK | RNKALQVRFK | DICEAQNEQR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DTQLSSGQLG | EKREAKPVSC | RAAYRKYMTV | PARRSIPNVT | KSTGVQTSPD | LKKCYQTFPL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DRKKGNLKSL | PAADPFKSQN | NGFLTDAKEK | NEAGPMEEAR | PCGAGRVHKT | TALVFHSNQH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| MNTVDQPLGV | NCTEPCKSPE | PLSYGEAALQ | NSTRPPSEEP | DYQLLGRAKQ | DRGRPNSEEP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| APPALRRVFK | TEVATVYAPA | LSARAPEPGL | SDSAAASQWS | LCPADDERRR | ATHLNGLQAP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SETALACSPP | MQCLSPECSE | QPSQTHTPPG | LGNQPSPTAV | AAGEECQRIV | PHTEVVDLKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QLQMMENLIS | SSQETIKVLL | GVIQELEKGE | AHREGLSYRT | GQDTANCDTC | RNSACIIYSV |
| 430 | 440 | 450 | 460 | 470 | |
| ELDFKQQEDK | LQPVLRKLHP | IEETQVIPSP | YSQETYSSTP | KQKSKTESKK | HGRWKLWFL |