Q2T9K0
PR
Gene name |
TMEM44 |
Protein name |
Transmembrane protein 44 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:93109 |
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 Q2T9K0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q2T9K0-F1 | Predicted | AlphaFoldDB |
509 variants for Q2T9K0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs762425474 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333030828 CA355822693 |
2 | G>R | No |
ClinGen TOPMed |
|
|
rs971684682 CA90620548 |
3 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1268630630 CA355822675 |
4 | A>V | No |
ClinGen gnomAD |
|
|
CA355822664 rs1383814391 |
5 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1017131317 CA90620528 |
6 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA355822616 rs1292547397 |
7 | P>R | No |
ClinGen TOPMed |
|
|
CA2762982 rs530870397 |
8 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762980 rs775628091 |
9 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1207893093 CA355822572 |
10 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1182409086 CA355822492 |
12 | W>* | No |
ClinGen gnomAD |
|
|
rs777555877 CA2762977 |
12 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs998707142 CA355822467 |
13 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA90620462 rs998707142 |
13 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA355822449 rs965435620 |
14 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1577242047 CA355822445 |
14 | W>C | No |
ClinGen Ensembl |
|
|
rs965435620 CA90620430 |
14 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355822414 rs1205909738 |
16 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 19 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2762975 rs201999197 |
19 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355822298 rs1314693960 |
20 | C>* | No |
ClinGen gnomAD |
|
|
rs1360405128 CA355822336 |
20 | C>R | No |
ClinGen gnomAD |
|
|
rs988554516 CA90620410 |
21 | F>S | No |
ClinGen Ensembl |
|
|
rs1226669496 CA355822245 |
22 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1375707483 CA355822211 |
23 | R>C | No |
ClinGen gnomAD |
|
|
CA2762972 rs754495466 |
23 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754495466 CA2762973 |
23 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2762971 VAR_031775 rs1675955 |
24 | H>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355822149 rs369359157 |
24 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758778102 CA355822143 |
25 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1426360369 CA355822129 |
25 | R>P | No |
ClinGen gnomAD |
|
|
rs758778102 CA2762969 |
25 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs750759430 CA2762968 |
26 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA90620356 rs533342152 |
27 | C>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs533342152 CA355822071 |
27 | C>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA355822060 rs1177286175 |
28 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA355822049 rs1032406577 |
28 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA90620335 rs866966617 |
28 | I>T | No |
ClinGen Ensembl |
|
|
CA355822058 rs1177286175 |
28 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2762967 rs765702931 |
29 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA355822019 CA355822018 rs762372222 |
30 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355822030 rs1490633331 |
30 | F>L | No |
ClinGen gnomAD |
|
|
CA355822014 rs1219566966 |
31 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355821985 rs1318972253 |
31 | G>V | No |
ClinGen gnomAD |
|
|
CA355821954 rs1223324042 |
32 | L>P | No |
ClinGen gnomAD |
|
|
CA90620317 rs999956431 |
33 | W>C | No |
ClinGen gnomAD |
|
|
rs868518759 CA90620322 |
33 | W>L | No |
ClinGen Ensembl |
|
|
rs1286434071 CA355821919 |
34 | I>L | No |
ClinGen gnomAD |
|
|
CA2762965 rs777302265 |
36 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA355821864 rs1302310250 |
37 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs559819028 CA2762963 |
38 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559819028 CA355821849 |
38 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355821833 rs1369008028 |
39 | C>G | No |
ClinGen TOPMed |
|
|
CA355821821 rs1472319192 |
39 | C>Y | No |
ClinGen TOPMed |
|
|
CA355821731 rs1415926457 |
42 | A>G | No |
ClinGen TOPMed |
|
|
rs1418055952 CA355821736 |
42 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1410388225 CA355821726 |
43 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 43 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775764307 CA2762962 |
43 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA355821711 rs1577241615 |
44 | H>P | No |
ClinGen Ensembl |
|
|
rs746104466 CA355821698 |
45 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2762960 rs746104466 |
45 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1189865295 CA355821684 |
46 | L>P | No |
ClinGen gnomAD |
|
|
rs1296034723 CA355820911 |
47 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA355820903 rs1338084374 |
48 | L>P | No |
ClinGen gnomAD |
|
|
rs1362614033 CA355820907 |
48 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355820898 rs200109302 |
49 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355820901 rs1166298869 |
49 | Y>H | No |
ClinGen gnomAD |
|
|
CA2762943 rs200109302 |
49 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762940 rs761254940 |
52 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs764563621 CA355820878 |
52 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs764563621 CA2762941 |
52 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2762938 rs767664888 |
54 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA355820853 rs1383220457 |
56 | P>S | No |
ClinGen TOPMed |
|
|
rs759703363 CA2762937 |
57 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs774604303 CA2762936 |
58 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460964723 CA355820836 |
59 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA355820817 rs1255385504 |
61 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1255385504 CA355820815 |
61 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1255385504 CA355820816 |
61 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2762933 rs776618686 |
63 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA355820790 rs1396773075 |
66 | A>T | No |
ClinGen Ensembl |
|
|
CA2762932 rs768420518 |
66 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs980734282 CA90616636 |
71 | T>I | No |
ClinGen TOPMed |
|
|
rs1245388834 CA355820758 |
71 | T>P | No |
ClinGen TOPMed |
|
|
rs980734282 CA355820754 |
71 | T>S | No |
ClinGen TOPMed |
|
|
rs1470622037 CA355820746 |
72 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355820753 rs1246054462 |
72 | S>R | No |
ClinGen gnomAD |
|
|
rs1339435531 CA355820742 |
73 | L>P | No |
ClinGen gnomAD |
|
|
CA2762928 rs779079710 |
74 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA355820723 rs1397859662 |
76 | T>A | No |
ClinGen gnomAD |
|
|
rs1397859662 CA355820724 |
76 | T>P | No |
ClinGen gnomAD |
|
|
rs778752232 CA355820718 |
77 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778752232 CA2762926 |
77 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762924 rs200991668 |
78 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762923 rs147138962 |
79 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355820697 rs1406577044 |
81 | L>M | No |
ClinGen TOPMed |
|
|
CA2762920 rs553262785 |
83 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355820679 rs535196864 |
84 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762919 rs535196864 |
84 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs137968389 CA2762918 |
84 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA90616588 rs150351493 |
86 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs202091242 CA2762917 |
87 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355820500 rs1194964113 |
89 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465081021 CA355820471 |
93 | A>V | No |
ClinGen gnomAD |
|
|
CA2762888 rs772969083 |
94 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2762889 rs140271606 |
94 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355820446 rs1432392471 |
98 | I>V | No |
ClinGen TOPMed |
|
|
rs1218993901 CA355820412 |
102 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 103 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1431679096 CA355820392 |
105 | F>V | No |
ClinGen gnomAD |
|
|
CA2762883 rs755419925 |
106 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2762880 rs765549706 |
109 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90614516 rs752064020 |
109 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA90614517 rs752064020 |
109 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs765549706 CA2762879 |
109 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765549706 CA2762878 |
109 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752483693 CA2762876 |
111 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA2762875 rs767446051 CA355820351 |
112 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs933200060 CA90614473 |
114 | K>N | No |
ClinGen Ensembl |
|
|
CA355820337 rs1395493022 |
114 | K>R | No |
ClinGen gnomAD |
|
|
CA355820332 rs1217607481 |
115 | F>L | No |
ClinGen TOPMed |
|
|
rs774473158 CA2762873 |
115 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs765967957 CA2762872 |
117 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355820318 rs1389213935 |
117 | S>T | No |
ClinGen gnomAD |
|
|
CA355820315 rs765967957 |
117 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762583379 CA2762871 |
118 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs368667054 CA2762870 |
118 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355820302 rs1249983030 |
119 | S>* | No |
ClinGen TOPMed |
|
|
CA2762853 rs749891043 |
121 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355820070 rs199587312 |
121 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199587312 CA2762852 |
121 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2762854 rs749891043 |
121 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372079665 CA90611904 |
122 | E>G | No |
ClinGen Ensembl |
|
|
CA2762851 rs761486059 |
122 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355820039 rs776302802 |
124 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762850 rs776302802 |
124 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90611894 rs1027575666 |
124 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA355819968 rs1311251775 |
129 | R>K | No |
ClinGen gnomAD |
|
|
CA2762847 rs373942035 |
129 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755616210 CA355819955 |
130 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs755616210 CA90611829 |
130 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2762846 rs141093359 |
130 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 131 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90611819 rs369953132 |
134 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA90611803 rs1053378783 |
135 | S>G | No |
ClinGen TOPMed |
|
|
CA355819893 rs779013652 |
135 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90611799 rs1034284985 |
135 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2762843 rs779013652 |
135 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355819879 rs1318881974 |
136 | V>E | No |
ClinGen gnomAD |
|
|
rs113748566 CA2762842 |
136 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749501223 CA2762841 |
139 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs749501223 CA355819845 |
139 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1268856389 CA355819849 |
139 | L>V | No |
ClinGen gnomAD |
|
|
CA2762839 rs754817123 |
140 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754817123 CA2762840 |
140 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372450027 CA2762838 |
140 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146561237 CA2762835 |
142 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA90611696 rs983577828 |
143 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761276252 CA355819792 |
144 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761276252 CA2762833 |
144 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761276252 CA2762832 |
144 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355819770 rs1457141448 |
146 | G>D | No |
ClinGen gnomAD |
|
|
CA2762829 rs200782246 |
147 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2762830 rs200782246 |
147 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355819755 rs200782246 |
147 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355819708 rs1560194864 |
150 | A>S | No |
ClinGen Ensembl |
|
|
CA355819672 rs1577218275 |
153 | V>I | No |
ClinGen Ensembl |
|
|
rs775770005 CA2762827 |
156 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1434180554 CA355819630 |
156 | P>S | No |
ClinGen gnomAD |
|
|
CA355819617 rs1486980881 |
157 | K>E | No |
ClinGen gnomAD |
|
|
rs1268094303 CA355819593 |
158 | A>V | No |
ClinGen TOPMed |
|
|
rs147683361 CA2762826 |
159 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355819567 rs1577218174 |
161 | T>A | No |
ClinGen Ensembl |
|
|
rs1328349223 CA355819561 |
161 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355819533 rs751359231 |
163 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771033000 CA2762823 |
163 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771033000 CA2762824 |
163 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751359231 COSM1593536 COSM1042735 CA2762825 |
163 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA355819520 rs1217053670 |
164 | G>A | No |
ClinGen gnomAD |
|
|
rs1300333302 CA355819528 |
164 | G>R | No |
ClinGen gnomAD |
|
|
rs1300333302 CA355819525 |
164 | G>W | No |
ClinGen gnomAD |
|
|
rs770085118 CA2762820 |
166 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762821 rs770085118 |
166 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561315274 CA2762817 |
167 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763819837 CA2762818 |
167 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762814 rs756752263 |
171 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs756752263 CA2762815 |
171 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA355819420 rs1027132712 |
172 | S>I | No |
ClinGen TOPMed |
|
|
CA90611521 rs1027132712 |
172 | S>T | No |
ClinGen TOPMed |
|
|
rs375988459 CA2762812 |
173 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355819252 rs1307820192 |
178 | T>A | No |
ClinGen gnomAD |
|
|
CA355819227 rs752383758 CA2762791 |
179 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90611220 rs368385775 |
180 | I>V | No |
ClinGen Ensembl |
|
|
CA90611212 rs745430225 |
181 | L>F | No |
ClinGen Ensembl |
|
|
rs1457522612 CA355819192 |
182 | G>S | No |
ClinGen gnomAD |
|
|
CA2762788 rs139916052 |
183 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2762789 rs553299479 |
183 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2762787 rs766873365 |
184 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1415629596 CA355819141 |
185 | L>P | No |
ClinGen gnomAD |
|
|
COSM307632 rs912191740 CA355819128 |
186 | G>D | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs912191740 CA90611157 |
186 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763514364 CA2762785 |
187 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2762783 rs199697463 |
188 | V>I | Variant assessed as Somatic; 4.669e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA355819086 rs1330448561 |
189 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762040855 CA2762781 |
192 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs762040855 CA355819032 |
192 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2762779 rs768692119 |
193 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388598908 CA355819001 |
194 | W>* | No |
ClinGen gnomAD |
|
|
rs773964729 CA2762778 |
194 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs773964729 CA2762777 |
194 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs377623176 CA2762776 |
197 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs929714156 CA90611088 |
197 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs867585432 CA90611058 |
199 | P>S | No |
ClinGen gnomAD |
|
|
rs867585432 CA355818948 |
199 | P>T | No |
ClinGen gnomAD |
|
|
CA355818931 rs1248086342 |
200 | P>A | No |
ClinGen gnomAD |
|
|
CA355818930 rs1184056134 |
200 | P>R | No |
ClinGen TOPMed |
|
|
rs375708561 CA2762772 |
201 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA90611007 rs866798069 |
202 | S>F | No |
ClinGen Ensembl |
|
|
rs769292255 CA2762771 |
202 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371132751 CA2762768 |
204 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2762769 rs371132751 |
204 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA90605456 rs1038119124 |
205 | A>D | No |
ClinGen TOPMed |
|
|
CA355817539 rs758828615 |
206 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762744 rs758828615 |
206 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183333976 CA2762743 |
207 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1229686 CA2762741 rs565869394 |
208 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2762742 rs779430075 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2762739 rs547083831 |
209 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1051669757 CA90605376 |
212 | I>S | No |
ClinGen TOPMed |
|
|
rs1051669757 CA355817429 |
212 | I>T | No |
ClinGen TOPMed |
|
|
CA355817400 rs1353269969 |
213 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs955307613 CA90605349 |
214 | T>A | No |
ClinGen Ensembl |
|
|
CA2762737 rs190188180 |
215 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1167682215 CA355817340 |
216 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA355817338 rs1167682215 |
216 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355817264 rs1163115217 |
219 | W>* | No |
ClinGen gnomAD |
|
|
rs373458978 CA2762736 |
219 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1560186831 CA355816399 |
220 | R>Q | No |
ClinGen Ensembl |
|
|
CA90605312 COSM1593537 rs962724603 |
220 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA90605298 rs375541581 |
222 | Q>P | No |
ClinGen Ensembl |
|
|
CA355816329 rs1183388359 |
223 | M>T | No |
ClinGen gnomAD |
|
|
CA355816160 rs1223845642 |
229 | S>C | No |
ClinGen gnomAD |
|
|
CA355816148 rs1322337262 |
230 | P>S | No |
ClinGen gnomAD |
|
|
CA90605263 rs58679389 |
232 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA90605249 rs386669926 |
232 | R>D | No |
ClinGen Ensembl |
|
|
CA2762733 rs58679389 |
232 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs12695036 CA2762732 VAR_066998 |
232 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs12695036 CA355816116 |
232 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA90605283 rs58679389 |
232 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355816094 rs1332626351 |
233 | S>Y | No |
ClinGen gnomAD |
|
|
rs1289954264 CA355816082 |
234 | P>S | No |
ClinGen gnomAD |
|
|
rs906004928 CA90605237 |
236 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355816027 rs1296164231 |
237 | H>Y | No |
ClinGen gnomAD |
|
|
CA2762731 rs761625577 |
238 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA355815982 rs776678713 |
239 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2762730 rs776678713 |
239 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2762729 rs376325057 |
239 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116803428 CA2762728 |
240 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771789792 CA2762726 |
241 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308048022 CA355815939 |
242 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA355815928 rs1472501054 |
242 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1174217531 CA355815911 |
243 | Q>H | No |
ClinGen TOPMed |
|
|
CA2762725 rs545687779 |
244 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs578108513 CA90605188 |
244 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1211946306 CA355815870 |
246 | V>G | No |
ClinGen gnomAD |
|
|
rs1228777130 CA355815865 |
247 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1316050339 CA355815861 |
248 | G>D | No |
ClinGen gnomAD |
|
|
rs1304939192 CA355815815 |
253 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA355815813 rs764024570 |
253 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764024570 CA2762709 |
253 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762710 rs764024570 |
253 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355815814 rs1304939192 |
253 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1304301634 CA355815812 |
254 | G>R | No |
ClinGen TOPMed |
|
|
CA2762708 rs145710073 |
254 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431880199 CA355815804 |
255 | K>R | No |
ClinGen gnomAD |
|
|
rs565527085 CA90604982 |
256 | T>S | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 257 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355815765 rs1459828625 |
261 | H>Y | No |
ClinGen TOPMed |
|
|
rs1427812877 CA355815758 |
262 | L>V | No |
ClinGen gnomAD |
|
|
rs1203452374 CA355815748 |
263 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1238558332 CA355815742 |
264 | T>S | No |
ClinGen TOPMed |
|
|
CA2762705 rs745482589 |
265 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs547220835 CA355815738 |
265 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2762704 rs774113680 |
266 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771198203 CA2762703 |
267 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs140177882 CA2762701 |
268 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274691012 CA355815719 |
269 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355815721 rs1274691012 |
269 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA355815718 rs1226123643 |
269 | A>V | No |
ClinGen gnomAD |
|
|
rs1397128452 CA355815701 |
272 | G>D | No |
ClinGen gnomAD |
|
|
rs1315520396 CA355815704 |
272 | G>R | No |
ClinGen gnomAD |
|
|
rs1315520396 CA355815703 |
272 | G>S | No |
ClinGen gnomAD |
|
|
CA90604951 rs1001191106 |
273 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1311463647 CA355815696 |
273 | L>R | No |
ClinGen gnomAD |
|
|
CA355815671 rs138638334 |
277 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138638334 CA2762697 |
277 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs535291300 CA2762698 |
277 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762695 rs201135563 |
278 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1012006885 CA90604915 |
279 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766688249 CA2762694 |
279 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531164784 CA90604897 |
280 | V>E | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 281 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355815649 rs1483819881 |
281 | A>V | No |
ClinGen gnomAD |
|
|
CA2762692 rs753610959 |
282 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs201921184 CA2762691 |
283 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355815640 rs201921184 |
283 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762690 rs760646334 |
284 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760646334 CA355815634 |
284 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355815633 rs760646334 |
284 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355815632 rs922282 |
284 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355815631 rs922282 |
284 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_066999 CA2762689 rs922282 |
284 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1299613317 CA355815619 |
286 | P>A | No |
ClinGen gnomAD |
|
|
rs767110731 CA2762688 |
286 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs767110731 CA355815616 |
286 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2762686 rs773741700 |
287 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs770563140 CA2762685 |
287 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355815600 rs1200276356 |
289 | L>V | No |
ClinGen TOPMed |
|
|
CA2762683 rs773587065 |
291 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762684 rs781255427 |
291 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577203450 CA355815569 |
295 | W>R | No |
ClinGen Ensembl |
|
|
rs764794395 CA2762681 |
299 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762682 rs764794395 |
299 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355815536 rs1409710006 |
300 | L>F | No |
ClinGen TOPMed |
|
|
rs148014105 CA355815532 |
301 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2762680 rs148014105 |
301 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs969746132 CA90604823 |
301 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2762679 rs144479226 |
302 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369611318 CA2762678 |
302 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs369611318 CA2762677 |
302 | R>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs369611318 CA355815526 |
302 | R>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2762675 rs368081316 |
303 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90604806 rs368081316 |
303 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559965078 CA90604803 |
304 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs969356432 CA90604785 |
305 | L>P | No |
ClinGen gnomAD |
|
|
rs1000429423 CA355815515 |
305 | L>V | No |
ClinGen gnomAD |
|
|
rs1333088231 CA355815505 |
306 | D>E | No |
ClinGen gnomAD |
|
|
rs149267668 CA2762672 |
307 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2762671 rs777589657 |
308 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90603439 rs976467381 |
309 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1042731 CA2762638 rs775906120 COSM1593539 |
313 | S>L | endometrium Variant assessed as Somatic; 4.621e-05 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA355815455 rs1192988429 |
313 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 315 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965450562 CA90603420 |
315 | V>M | No |
ClinGen TOPMed |
|
|
CA355815432 rs1239858253 |
316 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA90603415 rs868673747 |
317 | K>R | No |
ClinGen Ensembl |
|
|
CA2762636 rs745998398 |
318 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750423486 CA2762633 |
320 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781104743 CA2762632 |
321 | R>T | No |
ClinGen ExAC |
|
|
rs754779526 CA2762631 |
322 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1207918951 CA355815388 |
322 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1281783105 CA355815383 |
323 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1281783105 CA355815382 |
323 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1371016220 CA355815375 |
324 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 325 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90603315 rs868100565 |
327 | A>V | No |
ClinGen Ensembl |
|
|
CA355815352 rs1439292371 |
328 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs992214380 CA90603307 |
328 | K>R | No |
ClinGen gnomAD |
|
|
rs749875326 CA2762627 |
333 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs138606939 CA2762626 |
333 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1435597507 CA355815308 |
334 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2762624 rs756862542 |
335 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1452479379 CA355815297 |
336 | T>P | No |
ClinGen gnomAD |
|
|
rs569561589 CA355815280 |
338 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1263844819 CA355815283 |
338 | A>T | No |
ClinGen gnomAD |
|
|
rs569561589 CA2762622 |
338 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2762620 rs776056975 |
339 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776056975 CA2762621 |
339 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1240153080 CA355815275 |
339 | L>P | No |
ClinGen gnomAD |
|
|
rs1278951861 CA355815253 |
343 | A>S | No |
ClinGen gnomAD |
|
|
rs1278951861 CA355815252 |
343 | A>T | No |
ClinGen gnomAD |
|
|
CA90603182 rs866016265 |
343 | A>V | No |
ClinGen TOPMed |
|
|
CA355815246 rs1231503302 |
344 | E>* | No |
ClinGen gnomAD |
|
|
CA2762617 rs774536629 |
344 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs202003099 CA90603179 |
344 | E>G | No |
ClinGen 1000Genomes |
|
|
rs1577199612 CA355815241 |
345 | K>E | No |
ClinGen Ensembl |
|
|
CA355815224 rs1296839805 |
347 | E>* | No |
ClinGen gnomAD |
|
|
rs200146636 CA90603140 |
350 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs766555568 CA2762598 |
353 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90598819 rs749120614 |
353 | L>V | No |
ClinGen Ensembl |
|
|
rs375834895 CA2762597 |
354 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769848249 CA2762595 |
356 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 357 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 358 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA90598806 rs977016745 |
360 | T>I | No |
ClinGen TOPMed |
|
|
CA355815116 rs1194785319 |
361 | L>Q | No |
ClinGen gnomAD |
|
|
CA90598804 rs967024916 |
363 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA355815101 rs771942495 |
363 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs967024916 CA355815106 |
363 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs558611986 CA2762591 |
364 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355815098 rs1378454276 |
364 | C>G | No |
ClinGen TOPMed |
|
|
CA2762589 rs770420871 |
366 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011961842 CA90598768 |
367 | L>P | No |
ClinGen TOPMed |
|
|
CA2762588 rs748726688 |
368 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762586 rs755686102 |
370 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA2762587 rs777367586 |
370 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1466196743 CA355815050 |
372 | A>P | No |
ClinGen TOPMed |
|
|
CA355815046 rs1331336252 |
372 | A>V | No |
ClinGen TOPMed |
|
|
CA2762584 rs201606568 |
375 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762583 rs372901593 |
375 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752108758 CA90598726 |
377 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA355815015 rs1302355044 |
377 | M>R | No |
ClinGen TOPMed |
|
|
CA2762582 rs752108758 |
377 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2762581 rs766926917 |
378 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1364077194 CA355815001 |
379 | L>P | No |
ClinGen gnomAD |
|
|
rs1577189628 CA355814999 |
380 | T>P | No |
ClinGen Ensembl |
|
|
rs1330179464 CA355814991 |
381 | I>F | No |
ClinGen TOPMed |
|
|
CA355814987 rs141157074 |
381 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330179464 CA355814992 |
381 | I>V | No |
ClinGen TOPMed |
|
|
CA2762578 rs765388104 |
382 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA90598691 rs1034621472 |
382 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355814976 rs1271629776 |
383 | P>L | No |
ClinGen gnomAD |
|
|
CA2762577 rs761909572 |
383 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2762576 rs566340131 |
384 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355814970 rs1453692275 |
385 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2762574 rs759390287 |
386 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
CA2762571 rs770794904 |
386 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759390287 CA355814962 |
386 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
CA2762572 rs185040860 |
386 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539829829 CA90641533 |
387 | A>V | No |
ClinGen Ensembl |
|
|
CA90641528 rs930858594 |
388 | G>D | No |
ClinGen TOPMed |
|
|
rs1376953816 CA355825110 |
388 | G>R | No |
ClinGen gnomAD |
|
|
rs1376953816 CA355825109 |
388 | G>S | No |
ClinGen gnomAD |
|
|
rs1312945230 CA355825096 |
389 | C>Y | No |
ClinGen gnomAD |
|
|
CA355825082 rs1433634163 |
391 | A>T | No |
ClinGen gnomAD |
|
|
CA2762557 rs764231160 |
392 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs760897159 CA2762556 |
392 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1372833822 CA355825065 |
393 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs370371509 CA90641499 |
395 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2762555 rs370371509 |
395 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766204367 CA2762554 |
397 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867634287 CA355825029 CA90641492 |
398 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758678707 CA2762552 |
400 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 401 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2762550 rs377481095 |
402 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355824985 rs1356884819 |
403 | G>A | No |
ClinGen gnomAD |
|
|
CA2762548 rs768376448 COSM1421793 COSM1421792 |
403 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746689416 CA2762547 |
404 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs369571041 CA2762546 |
405 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2762545 rs554456254 |
405 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762543 rs377127208 |
406 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355824956 rs1560170045 |
407 | L>P | No |
ClinGen Ensembl |
|
|
rs1187428370 CA355824939 |
409 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1577175655 CA355824936 |
409 | D>E | No |
ClinGen Ensembl |
|
|
CA355824938 rs1187428370 |
409 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA355824928 rs1471948658 |
410 | P>L | No |
ClinGen gnomAD |
|
|
CA2762540 rs151243596 |
411 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151243596 CA355824922 |
411 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373869816 CA90641402 |
412 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1277836850 CA355824917 |
412 | S>P | No |
ClinGen gnomAD |
|
|
rs373869816 CA2762538 |
412 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766152657 CA2762536 |
415 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA355824886 rs142364954 |
416 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2762535 rs142364954 |
416 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2762534 rs149163449 |
418 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355824870 rs1227353707 |
418 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs765165336 CA355824856 |
419 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355824861 rs1280772204 |
419 | I>V | No |
ClinGen gnomAD |
|
|
CA2762531 rs776238389 |
420 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200954954 CA2762532 |
420 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145373799 CA2762530 |
422 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs990818348 CA90641355 |
422 | R>W | No |
ClinGen gnomAD |
|
|
CA355824816 rs1410515936 |
423 | V>E | No |
ClinGen gnomAD |
|
|
rs996501085 CA90641340 |
423 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs996501085 CA355824819 |
423 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1035073122 CA90641338 |
424 | S>P | No |
ClinGen TOPMed |
|
|
rs1177850891 CA355824784 |
425 | S>F | No |
ClinGen gnomAD |
|
|
rs140191748 CA2762528 |
426 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867373262 CA90641306 |
429 | S>F | No |
ClinGen Ensembl |
|
|
CA355824704 rs1469792576 |
431 | V>I | No |
ClinGen gnomAD |
|
|
rs868460383 CA90641303 |
432 | S>F | No |
ClinGen TOPMed |
|
|
rs779156338 CA2762525 |
433 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs893087316 CA355824652 |
435 | N>S | No |
ClinGen gnomAD |
|
|
rs893087316 CA90641283 |
435 | N>T | No |
ClinGen gnomAD |
|
|
rs1170723089 CA355824642 |
436 | S>A | No |
ClinGen TOPMed |
|
|
CA2762523 rs139058985 |
437 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2762522 rs777811530 |
437 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2762521 rs752915741 |
439 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA355824603 rs752915741 |
439 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2762520 rs752915741 |
439 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2762455 rs746122825 |
440 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA355822657 rs1308663022 |
440 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777678143 CA2762454 |
443 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs183848229 CA2762452 |
448 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2762451 rs183848229 |
448 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754957376 CA2762450 |
449 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA355822476 rs1161044380 |
449 | G>S | No |
ClinGen gnomAD |
|
|
CA2762449 rs750989455 |
451 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs765949108 CA2762448 |
453 | N>D | No |
ClinGen ExAC |
|
| TCGA novel | 453 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355822368 rs1157577100 |
453 | N>T | No |
ClinGen gnomAD |
|
|
rs1397503189 CA355822345 |
455 | E>D | No |
ClinGen gnomAD |
|
|
CA355822327 rs1451338950 |
457 | L>R | No |
ClinGen gnomAD |
|
|
rs752694991 CA2762446 |
458 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765571309 CA2762445 |
462 | H>P | No |
ClinGen ExAC TOPMed |
|
|
rs950820848 CA355822224 |
462 | H>Q | No |
ClinGen TOPMed |
|
|
rs777055184 CA355822142 |
466 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777055184 CA2762443 |
466 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355822101 rs1305458128 |
467 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA90628852 rs775376744 |
469 | A>V | No |
ClinGen Ensembl |
|
|
CA2762441 rs200235917 |
470 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355822068 rs1233907637 |
470 | H>Y | No |
ClinGen gnomAD |
|
|
rs1448865568 CA355822012 |
472 | S>R | No |
ClinGen gnomAD |
|
|
rs371584828 CA2762439 |
473 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2762440 rs761267288 |
473 | D>N | No |
ClinGen ExAC gnomAD |
No associated diseases with Q2T9K0
No regional properties for Q2T9K0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q2T9K0 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q12010 | YPQ1 | Probable vacuolar amino acid transporter YPQ1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGEAPSPAPA | LWDWDYLDRC | FARHRVCISF | GLWICASSCW | IAAHALLLYL | RCAQKPRQDQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SALCAACCLL | TSLCDTVGAL | LARQLTIQVF | TGAYLAAIDL | VNFMFILFPV | CGSKFKSNSD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REARERKRRR | QLRASVFALA | LPLSLGPCWA | LWVAVPKASA | TIRGPQRRLL | ASLLQENTEI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGYLLGSVAA | FGSWASRIPP | LSRIAPPPTL | GITTQHEIWR | GQMSKPSQSP | SRSPSGHWRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAQRQVLGTE | MCRGKTFPSI | HLWTRLLSAL | AGLLYASAIV | AHDQHPEYLL | RATPWFLTSL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GRAALDLAII | FLSCVMKSKM | RQALGFAKEA | RESPDTQALL | TCAEKEEENQ | ENLDWVPLTT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSHCKSLRTM | TAISRYMELT | IEPVQQAGCS | ATRLPGDGQT | SAGDASLQDP | PSYPPVQVIR |
| 430 | 440 | 450 | 460 | 470 | |
| ARVSSGSSSE | VSSINSDLEW | DPEDVNLEGS | KENVELLGSQ | VHQDSVRTAH | LSDDD |