Q2M3C6
Gene name |
TMEM266 |
Protein name |
Transmembrane protein 266 |
Names |
hTMEM266, HV1-related protein 1, HsHVRP1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:123591 |
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 Q2M3C6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q2M3C6-F1 | Predicted | AlphaFoldDB |
475 variants for Q2M3C6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749288406 CA7672961 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA393628399 rs1364563968 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA7672962 rs768613347 |
5 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs114291110 CA7672963 |
6 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114291110 CA7672964 |
6 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369334168 CA7672965 |
7 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393628464 rs1489075341 |
8 | N>I | No |
ClinGen TOPMed |
|
|
CA393628496 rs1353512983 |
10 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393628498 rs1353512983 |
10 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1319691126 CA393628506 |
11 | N>S | No |
ClinGen TOPMed |
|
|
rs1398266134 CA393629039 |
13 | Q>H | No |
ClinGen gnomAD |
|
|
rs928955471 CA273417228 |
16 | I>V | No |
ClinGen gnomAD |
|
|
CA7672982 rs747935485 |
18 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771915334 CA7672984 |
20 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA393629102 rs1219497543 |
23 | V>A | No |
ClinGen gnomAD |
|
|
CA7672985 rs370445042 |
25 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA273417243 rs891192320 |
27 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 28 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771077402 CA7672987 |
29 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs776711597 CA7672988 |
32 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393629175 rs1251305530 |
34 | T>A | No |
ClinGen gnomAD |
|
|
CA393629179 rs1486216365 |
34 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393629198 rs1423735164 |
37 | I>V | No |
ClinGen gnomAD |
|
|
rs1044547272 CA273417252 |
38 | A>S | No |
ClinGen Ensembl |
|
|
CA393629210 rs1170600566 |
39 | P>S | No |
ClinGen gnomAD |
|
|
CA393629219 rs1427462938 |
40 | V>G | No |
ClinGen gnomAD |
|
|
CA7672991 rs776195376 |
41 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1596128064 CA393629228 |
42 | L>V | No |
ClinGen Ensembl |
|
|
rs763386965 CA7672992 |
47 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540647010 CA7672995 |
48 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7672994 rs540647010 |
48 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200391773 CA7672993 |
48 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1596128082 CA393629281 |
50 | L>W | No |
ClinGen Ensembl |
|
|
COSM1243122 rs1382699944 CA393629286 |
51 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs753279696 CA7672997 |
52 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 54 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7672998 rs754552309 |
55 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7673000 rs778812089 |
56 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7672999 rs778812089 |
56 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393629319 rs1348785407 |
57 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393629328 rs1213547282 |
58 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758162612 CA7673001 |
59 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673003 rs200729077 |
60 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7673004 rs372015383 |
62 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745928129 CA7673006 |
63 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7673007 rs374327200 |
64 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776108925 CA7673008 |
64 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 66 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7673009 rs201363747 |
67 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764539432 CA7673010 |
68 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673012 rs762095902 COSM3504157 |
70 | E>K | Variant assessed as Somatic; 4.97e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762095902 CA393629391 |
70 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273417362 rs971145002 |
73 | Q>E | No |
ClinGen TOPMed |
|
|
rs1567163930 CA393629424 |
74 | R>T | No |
ClinGen Ensembl |
|
| TCGA novel | 75 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7673014 rs753553131 |
75 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751493153 CA7673038 |
77 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1178787685 CA393630900 |
80 | L>M | No |
ClinGen gnomAD |
|
|
CA393630902 rs1409454559 |
80 | L>P | No |
ClinGen gnomAD |
|
|
rs368599050 CA7673039 |
82 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7673040 rs375702425 |
84 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756338158 CA7673042 |
85 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7673041 rs750274766 |
85 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs976221083 CA273427227 |
87 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7673043 rs780436455 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7673046 rs779440839 |
90 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673047 rs779440839 |
90 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673048 rs772651590 |
92 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA7673049 rs201537562 |
93 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273427274 rs905116019 |
96 | L>F | No |
ClinGen Ensembl |
|
|
rs1439192569 CA393631009 |
97 | S>N | No |
ClinGen TOPMed |
|
|
CA393631013 rs1596140403 |
97 | S>R | No |
ClinGen Ensembl |
|
|
CA393631030 rs1163659376 |
100 | L>P | No |
ClinGen TOPMed |
|
|
CA7673050 rs761044327 |
100 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393631064 rs1307762448 |
105 | V>L | No |
ClinGen gnomAD |
|
|
rs937884671 CA273427280 |
106 | A>S | No |
ClinGen Ensembl |
|
|
rs1206140171 CA393631097 |
110 | L>S | No |
ClinGen gnomAD |
|
|
CA393631112 rs1596140418 |
112 | V>G | No |
ClinGen Ensembl |
|
|
rs1387952651 CA393631118 |
113 | I>S | No |
ClinGen TOPMed |
|
|
rs564550568 CA7673052 |
118 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762495527 CA7673053 |
118 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 123 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs186201023 CA7673055 |
124 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393631206 rs1596140445 |
127 | Q>H | No |
ClinGen Ensembl |
|
|
rs1311429568 CA393631231 |
129 | S>P | No |
ClinGen TOPMed |
|
|
rs780642775 CA7673074 |
131 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs550666214 CA273429851 COSM1939732 |
136 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1413079047 CA393631336 |
136 | G>V | No |
ClinGen gnomAD |
|
|
CA7673077 rs369743897 |
137 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393631354 rs1436655378 |
138 | I>F | No |
ClinGen gnomAD |
|
|
rs747394893 CA273429879 |
140 | W>S | No |
ClinGen Ensembl |
|
|
CA7673078 rs149378942 |
141 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 144 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300459257 CA393631441 |
144 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765514600 CA7673081 |
147 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7673083 rs758543246 |
148 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210730826 CA393631518 |
150 | F>L | No |
ClinGen gnomAD |
|
|
CA393631548 rs1423749413 |
152 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 153 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393632285 rs1490068727 |
153 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393632287 rs1198676505 |
154 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 155 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364721120 CA393632300 |
156 | R>P | No |
ClinGen gnomAD |
|
|
rs200133901 CA7673100 |
157 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393632311 rs1157629800 |
158 | V>L | No |
ClinGen gnomAD |
|
|
rs1461522447 CA393632351 |
164 | D>Y | No |
ClinGen gnomAD |
|
|
rs751672162 CA7673103 |
166 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781729675 CA7673105 |
167 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1329339593 CA393632371 |
167 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM3794417 rs1391701952 CA393632442 |
175 | G>R | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA393632448 rs1308649639 |
176 | A>T | No |
ClinGen gnomAD |
|
|
CA7673132 rs199900820 |
177 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770518242 CA7673133 |
178 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs745772345 CA7673135 |
183 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA393632494 rs1401338642 |
183 | A>V | No |
ClinGen gnomAD |
|
|
rs769651494 CA7673136 |
184 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768852904 CA7673139 |
187 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs750489923 CA7673144 |
192 | N>K | No |
ClinGen ExAC |
|
|
CA7673142 rs767683352 |
192 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7673146 rs143442681 |
196 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372297539 CA393632598 |
199 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393632601 rs1483204532 |
200 | A>T | No |
ClinGen gnomAD |
|
|
CA393632606 rs1208867721 |
201 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1335348644 CA393632622 |
203 | L>F | No |
ClinGen TOPMed |
|
|
rs763810883 CA7673149 |
205 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1306408484 CA393632641 |
206 | M>L | No |
ClinGen TOPMed |
|
|
rs1306408484 CA393632640 |
206 | M>V | No |
ClinGen TOPMed |
|
|
rs751309321 CA7673150 |
207 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7673151 rs756884747 |
208 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs919438683 CA273438621 |
208 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA393632672 rs1173613981 |
211 | R>G | No |
ClinGen gnomAD |
|
|
CA7673153 rs375197205 |
211 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780024822 CA7673155 |
212 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7673154 rs756021527 |
212 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs201845851 CA7673157 |
215 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7673158 rs774532797 |
217 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 219 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7673185 rs760082559 |
219 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7673187 rs373335165 |
220 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7673190 rs750081808 |
226 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 228 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7673191 rs760155139 |
230 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765824878 CA393632844 |
234 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673193 rs761300568 |
235 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201795006 CA7673194 |
236 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752520367 CA7673196 |
239 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs778038275 CA7673198 |
240 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1339634194 CA393632888 |
241 | Q>R | No |
ClinGen gnomAD |
|
|
CA273442175 rs942023218 |
242 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA393632893 rs942023218 |
242 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs769321159 CA273442182 |
243 | E>K | No |
ClinGen Ensembl |
|
|
CA7673200 rs771311818 |
244 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7673201 rs781358139 |
245 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 246 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273442209 rs912498287 |
248 | L>M | No |
ClinGen Ensembl |
|
|
CA393632937 rs1596153556 |
249 | T>A | No |
ClinGen Ensembl |
|
|
CA393632940 rs772544145 |
249 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772544145 CA7673203 |
249 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673205 rs763347104 |
250 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs373481496 CA7673206 |
255 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393632982 rs1275777688 |
255 | Q>R | No |
ClinGen TOPMed |
|
|
CA7673207 rs774799142 |
256 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA273453541 rs745773664 |
258 | E>D | No |
ClinGen Ensembl |
|
|
CA7673241 rs755381660 |
259 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1038205774 CA273453545 |
260 | R>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 260 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7673242 rs779450021 |
263 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 265 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273453581 rs919752806 |
267 | A>V | No |
ClinGen TOPMed |
|
|
rs1288911821 CA393633370 |
268 | Q>H | No |
ClinGen gnomAD |
|
|
rs748503664 CA7673244 |
269 | Q>R | No |
ClinGen ExAC |
|
|
rs368640787 CA7673246 |
270 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259012618 CA393633394 |
272 | D>A | No |
ClinGen gnomAD |
|
|
CA7673247 rs745484675 |
272 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393633403 rs1399003093 |
274 | A>T | No |
ClinGen gnomAD |
|
|
CA273453627 rs912590842 |
275 | A>T | No |
ClinGen gnomAD |
|
|
rs1319355096 CA393633413 |
275 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763933915 CA7673252 |
276 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs763933915 CA7673251 |
276 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045062045 CA273453714 |
278 | E>K | No |
ClinGen TOPMed |
|
|
rs1473851164 CA393633433 |
279 | A>T | No |
ClinGen gnomAD |
|
|
rs1179453474 CA393633444 |
280 | A>V | No |
ClinGen gnomAD |
|
|
CA393633449 rs1455067941 |
281 | L>R | No |
ClinGen TOPMed |
|
|
rs756222990 CA7673256 |
281 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs753844829 CA7673258 |
282 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA393633453 rs1423841610 |
282 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755147854 CA7673260 |
283 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673259 rs755147854 |
283 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758938634 CA7673263 |
284 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA393633461 rs758938634 |
284 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7673262 rs758938634 |
284 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1205460544 CA393633466 |
285 | H>D | No |
ClinGen TOPMed |
|
|
CA7673265 rs747418266 |
285 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393633472 rs1596167651 |
286 | V>M | No |
ClinGen Ensembl |
|
|
CA393633479 rs775280219 |
287 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673266 rs775280219 |
287 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748716750 CA7673267 |
288 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs768333397 CA273453814 |
290 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673268 rs768333397 |
290 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393633500 rs1596167673 |
290 | P>T | No |
ClinGen Ensembl |
|
|
rs1275770438 CA393633510 |
292 | S>C | No |
ClinGen gnomAD |
|
|
CA393633512 rs1258701126 |
292 | S>I | No |
ClinGen gnomAD |
|
|
rs1596167697 CA393633518 |
293 | R>C | No |
ClinGen Ensembl |
|
|
CA7673269 rs774022859 |
295 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs931356692 CA273453824 |
295 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1189010322 CA393633536 |
296 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393633546 rs1445679423 |
297 | L>W | No |
ClinGen gnomAD |
|
|
CA393633549 rs1443602655 |
298 | E>K | No |
ClinGen gnomAD |
|
|
CA393633564 rs1169026227 |
300 | G>R | No |
ClinGen gnomAD |
|
|
rs1169026227 CA393633563 |
300 | G>S | No |
ClinGen gnomAD |
|
|
CA393633571 rs1375270266 |
301 | T>A | No |
ClinGen TOPMed |
|
|
rs186450715 CA7673271 |
301 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA393633589 rs1297551782 |
303 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1427527594 CA393633583 |
303 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA393633612 rs1175585508 |
306 | T>M | No |
ClinGen TOPMed |
|
|
rs760576380 CA393633616 |
307 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363664433 CA393633613 |
307 | A>T | No |
ClinGen TOPMed |
|
|
rs760576380 CA7673273 |
307 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393633619 rs1380918095 |
308 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA393633620 rs1380918095 |
308 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA273453878 rs1012861884 |
308 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA273453896 rs907094360 |
310 | S>R | No |
ClinGen Ensembl |
|
|
CA393633640 rs1255025951 |
311 | V>I | No |
ClinGen TOPMed |
|
|
CA393633649 rs1212393768 |
312 | V>A | No |
ClinGen TOPMed |
|
|
CA393633658 rs1225630843 |
314 | E>K | No |
ClinGen gnomAD |
|
|
CA393633679 rs1251306158 |
317 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7673274 rs534350468 |
320 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7673288 rs772121084 |
321 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673289 rs773264443 |
322 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs77972713 CA273672628 |
323 | M>L | No |
ClinGen Ensembl |
|
|
rs201419583 CA7673291 |
324 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376055659 CA7673293 |
326 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs545690986 CA7673294 |
327 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1469362051 CA393508142 |
327 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7673295 rs62030189 |
329 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393508168 rs1400969255 |
330 | Y>C | No |
ClinGen TOPMed |
|
|
rs1368776322 CA393508176 |
331 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 331 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273672644 rs940684944 |
331 | I>V | No |
ClinGen TOPMed |
|
|
CA393508191 rs1345428748 |
333 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7673297 rs780582555 |
333 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1445937923 CA393508206 |
335 | Y>C | No |
ClinGen TOPMed |
|
|
rs1228534096 CA393508213 |
336 | N>S | No |
ClinGen gnomAD |
|
|
CA393508244 rs752158649 |
340 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs906445212 CA273673602 |
342 | S>N | No |
ClinGen TOPMed |
|
|
rs199679215 CA273673605 |
342 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7673331 rs201840892 |
343 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745636326 CA7673332 |
344 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238435717 CA393508289 |
346 | E>Q | No |
ClinGen TOPMed |
|
|
CA273673634 rs746513572 |
347 | P>Q | No |
ClinGen Ensembl |
|
|
rs565357087 CA393508305 |
348 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7673333 rs565357087 |
348 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7673335 rs749473065 |
351 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs775287535 CA7673334 |
351 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA393508321 rs1384591676 |
351 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1361943684 CA393508332 |
352 | V>G | No |
ClinGen gnomAD |
|
|
rs1342622016 CA393508334 |
353 | T>A | No |
ClinGen gnomAD |
|
|
rs1405873500 CA393508337 |
353 | T>S | No |
ClinGen TOPMed |
|
|
rs1230255649 CA393508340 |
354 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7673336 rs542868398 |
354 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230255649 CA393508339 |
354 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1438550888 CA393508348 |
355 | A>G | No |
ClinGen TOPMed |
|
|
rs556150508 CA273673666 |
356 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA273673669 rs201833387 |
357 | I>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201833387 COSM701816 CA7673341 |
357 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs532604457 CA7673340 |
357 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766796985 CA7673342 |
358 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673343 rs144785138 |
359 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1170006208 CA393508367 |
359 | I>V | No |
ClinGen gnomAD |
|
|
CA7673346 rs200903166 |
360 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7673345 rs200903166 |
360 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7673344 rs758000358 |
360 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373557591 CA7673347 |
362 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1045857460 CA273673701 |
363 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA393508409 rs1365465747 |
365 | S>F | No |
ClinGen gnomAD |
|
|
CA393508405 rs1335677367 |
365 | S>P | No |
ClinGen gnomAD |
|
|
CA7673350 rs148570844 |
366 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393508418 rs1219771804 |
367 | D>A | No |
ClinGen gnomAD |
|
|
CA273673724 rs141364961 |
368 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs141364961 CA393508424 |
368 | L>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1360468378 CA393508428 |
369 | F>L | No |
ClinGen TOPMed |
|
|
CA393508437 rs1334482768 |
370 | S>A | No |
ClinGen TOPMed |
|
|
rs768908339 CA7673354 |
371 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749093260 CA7673353 |
371 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1195846111 CA393508454 |
373 | M>V | No |
ClinGen gnomAD |
|
|
CA7673355 rs779070135 |
374 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159960383 CA393508469 |
375 | L>F | No |
ClinGen TOPMed |
|
|
CA393508486 rs1431995921 |
377 | L>R | No |
ClinGen gnomAD |
|
|
CA7673358 rs370901685 |
378 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193276787 CA393508494 |
379 | G>D | No |
ClinGen TOPMed |
|
|
CA7673360 rs199852426 |
379 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376932946 CA7673362 |
384 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7673363 rs763774429 |
384 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs371381699 CA7673364 |
385 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371381699 CA7673365 |
385 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393508529 rs1596178218 |
385 | T>P | No |
ClinGen Ensembl |
|
|
CA393508535 rs141978373 |
386 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7673367 rs141978373 |
386 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7673366 rs766975266 |
386 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA393508543 rs1337991378 |
387 | E>D | No |
ClinGen TOPMed |
|
|
CA393508541 rs1398960267 |
387 | E>G | No |
ClinGen TOPMed |
|
|
CA7673370 rs753624101 |
388 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA393508551 rs1446787619 |
388 | S>R | No |
ClinGen gnomAD |
|
|
CA393508553 rs1299432851 |
389 | A>P | No |
ClinGen TOPMed |
|
|
CA7673371 rs201746326 |
391 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7673372 VAR_026880 rs937732 |
391 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs937732 CA393508566 |
391 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1198113887 CA393508569 |
392 | S>G | No |
ClinGen gnomAD |
|
|
CA273673819 rs986003816 |
393 | S>* | No |
ClinGen Ensembl |
|
|
rs1470851793 CA393508592 |
395 | T>I | No |
ClinGen gnomAD |
|
|
CA393508587 rs1596178303 |
395 | T>P | No |
ClinGen Ensembl |
|
|
rs965832770 CA273673822 |
396 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777931400 CA7673375 |
396 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393508596 rs1194396801 |
397 | A>T | No |
ClinGen TOPMed |
|
|
CA273673830 rs971975411 |
397 | A>V | No |
ClinGen gnomAD |
|
|
CA393508615 rs1596178337 |
399 | S>R | No |
ClinGen Ensembl |
|
|
rs1245475315 CA393508626 |
401 | S>G | No |
ClinGen TOPMed |
|
|
rs1304720477 CA393508631 |
401 | S>R | No |
ClinGen gnomAD |
|
|
rs201057411 CA393508652 |
404 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201057411 CA7673376 |
404 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7673379 rs759926541 |
405 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777320679 CA7673378 |
405 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA393508665 rs1241186519 |
407 | S>A | No |
ClinGen gnomAD |
|
|
rs761306701 CA7673382 |
409 | M>T | No |
ClinGen ExAC TOPMed |
|
|
CA393508675 rs1315608451 |
409 | M>V | No |
ClinGen TOPMed |
|
|
rs767171611 CA7673383 |
410 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7673384 rs143570529 |
411 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA273673860 rs937888304 |
411 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7673385 rs760243011 |
412 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1251800762 CA393508701 |
412 | S>R | No |
ClinGen gnomAD |
|
|
CA393508699 rs1222431601 |
412 | S>T | No |
ClinGen gnomAD |
|
|
CA919593240 rs1567188587 |
413 | T>M | No |
ClinGen Ensembl |
|
|
CA393508703 rs1596178431 |
413 | T>P | No |
ClinGen Ensembl |
|
|
rs754961645 CA7673388 |
415 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673389 rs373954795 |
415 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373954795 CA7673390 |
415 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393508717 rs373954795 |
415 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1045911513 CA273673892 |
416 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7673395 rs368467428 |
418 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776253667 CA7673397 |
420 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA393508747 rs1193010394 |
420 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1335439213 CA393508749 |
421 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1459415817 CA393508758 |
422 | P>A | No |
ClinGen TOPMed |
|
|
CA393508764 rs749721963 |
423 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749721963 CA393508763 |
423 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673402 rs749721963 |
423 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673403 rs771706401 |
424 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7673404 rs772888949 |
425 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393508779 rs1446693143 |
426 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs937733 VAR_026881 CA7673406 |
427 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1179041367 CA619415622 |
427 | P>R | No |
ClinGen gnomAD |
|
|
rs937733 CA7673407 |
427 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765232679 CA7673409 |
428 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765232679 CA393508792 |
428 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3401937 CA393508800 rs1185061892 |
430 | P>S | central_nervous_system Variant assessed as Somatic; 4.665e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA273673947 rs893366145 |
431 | S>P | No |
ClinGen Ensembl |
|
|
CA393508812 rs1240806259 |
432 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA7673411 rs758310240 |
434 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA273673959 rs751784075 |
434 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764391009 CA7673412 |
434 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273673963 rs1028741213 |
435 | V>A | No |
ClinGen Ensembl |
|
|
rs1460373618 CA393508831 |
435 | V>M | No |
ClinGen gnomAD |
|
|
rs1567188745 CA393508835 |
436 | E>K | No |
ClinGen Ensembl |
|
|
rs371561578 CA7673415 |
437 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757584641 CA7673414 |
437 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745917005 CA7673416 |
438 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745917005 CA393508849 |
438 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965884640 CA273673973 |
441 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs145543210 CA7673418 |
441 | Q>R | No |
ClinGen ESP ExAC |
|
|
CA393508883 rs749618248 |
443 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673419 rs749618248 |
443 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673422 rs368038771 COSM380889 |
448 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs368038771 CA7673423 |
448 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7673425 rs759141753 |
449 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393508911 rs1240946980 |
449 | E>K | No |
ClinGen gnomAD |
|
|
rs775548031 CA7673428 |
451 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs775548031 CA7673427 |
451 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7673426 rs765056522 |
451 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148877983 CA7673430 |
452 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7673432 rs767841400 |
453 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1404251068 CA393508948 |
455 | Q>* | No |
ClinGen gnomAD |
|
|
CA273674013 rs969661650 |
455 | Q>R | No |
ClinGen Ensembl |
|
|
rs756255064 CA7673434 |
456 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7673435 rs145161130 |
456 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs915148113 CA273674020 |
457 | A>P | No |
ClinGen TOPMed |
|
|
CA273674029 rs928359695 |
457 | A>V | No |
ClinGen Ensembl |
|
|
rs779182339 CA393508994 |
458 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755505555 CA7673437 |
458 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748524275 CA7673439 |
459 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA393509049 rs543853072 |
461 | A>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA393509046 rs1260669140 |
461 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs543853072 CA273674038 |
461 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA393509051 COSM361810 rs1262063774 |
462 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1484773682 CA393509055 |
462 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7673443 rs375411507 |
463 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375411507 CA273674057 |
463 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393509068 rs1596178849 |
463 | L>P | No |
ClinGen Ensembl |
|
|
CA7673442 rs375411507 |
463 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481366012 CA393509073 |
464 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA273674066 rs774278839 |
465 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673449 rs774278839 |
465 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7673447 rs762917837 |
465 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347174585 CA393509110 |
466 | P>H | No |
ClinGen gnomAD |
|
|
CA7673452 rs1555454138 |
467 | S>R | No |
ClinGen Ensembl |
|
|
CA393509126 rs1163254527 |
467 | S>T | No |
ClinGen TOPMed |
|
|
CA273674080 rs1041161642 |
468 | P>L | No |
ClinGen gnomAD |
|
|
CA7673455 rs565252084 |
469 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393509144 rs1567188958 |
470 | G>S | No |
ClinGen Ensembl |
|
|
rs147646086 CA7673457 |
471 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262040134 CA393509201 |
475 | S>R | No |
ClinGen TOPMed |
|
|
rs755419801 CA7673461 |
475 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs200554943 CA273674093 |
476 | P>T | No |
ClinGen 1000Genomes |
|
|
CA7673464 rs758847948 |
477 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs758847948 CA7673466 |
477 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758847948 CA7673465 |
477 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1220196245 CA393509225 |
479 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7673469 rs142307813 |
480 | H>R | No |
ClinGen ESP ExAC |
|
|
rs1262308413 CA393509238 |
480 | H>Y | No |
ClinGen TOPMed |
|
|
CA393509255 rs1488233570 |
481 | R>G | No |
ClinGen gnomAD |
|
|
rs952030565 CA393509261 |
481 | R>K | No |
ClinGen TOPMed |
|
|
CA273674155 rs952030565 |
481 | R>T | No |
ClinGen TOPMed |
|
|
CA393509293 rs748868524 |
483 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748868524 CA393509296 |
483 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673470 rs748868524 |
483 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746862201 CA273674174 |
484 | L>P | No |
ClinGen TOPMed |
|
|
rs1596179042 CA393509345 |
485 | F>L | No |
ClinGen Ensembl |
|
|
CA393509333 rs1417521338 |
485 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7673473 rs371899674 |
486 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7673474 rs761488660 |
488 | K>N | No |
ClinGen ExAC |
|
|
CA7673476 rs772908199 |
490 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771848584 CA7673475 |
490 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022858116 CA273674198 |
494 | T>I | No |
ClinGen TOPMed |
|
|
CA7673478 rs760880166 |
494 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760880166 CA393509475 |
494 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 496 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969709170 CA273674201 |
496 | F>L | No |
ClinGen gnomAD |
|
|
CA7673479 rs766523878 |
497 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs981061103 CA273674204 |
498 | I>S | No |
ClinGen gnomAD |
|
|
CA7673480 rs776679000 |
499 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA273674205 rs145747266 |
499 | R>T | No |
ClinGen ESP |
|
|
CA7673481 rs759678524 |
500 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765700338 CA7673482 |
502 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA273674223 rs1003226137 |
504 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs148206905 CA7673483 |
504 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393509624 rs1307977748 |
505 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7673486 rs751884312 |
508 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA393509668 rs1234698773 |
508 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1034716339 CA273674249 |
509 | P>S | No |
ClinGen TOPMed |
|
|
rs955789282 CA273674256 |
510 | M>T | No |
ClinGen Ensembl |
|
|
rs1243915686 CA393509706 |
511 | L>R | No |
ClinGen gnomAD |
|
|
rs755781988 CA7673488 |
512 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7673489 rs779923079 |
514 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA393509757 rs1413751828 |
515 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs376333952 CA393509775 |
516 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352290788 CA393509780 |
516 | R>T | No |
ClinGen gnomAD |
|
|
CA7673492 rs778584893 |
519 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7673493 rs748075707 |
520 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA393509850 rs1450238917 |
522 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs773001964 CA7673495 |
523 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7673497 rs771136340 |
524 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA7673498 rs776876074 |
525 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7673499 rs776876074 |
525 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393509876 rs1305851934 |
526 | H>Y | No |
ClinGen gnomAD |
|
|
CA7673500 rs765262559 |
527 | R>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q2M3C6
No regional properties for Q2M3C6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q2M3C6 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| 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. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVAPSFNMT | NPQPAIEGGI | SEVEIISQQV | DEETKSIAPV | QLVNFAYRDL | PLAAVDLSTA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GSQLLSNLDE | DYQREGSNWL | KPCCGKRAAV | WQVFLLSASL | NSFLVACVIL | VVILLTLELL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IDIKLLQFSS | AFQFAGVIHW | ISLVILSVFF | SETVLRIVVL | GIWDYIENKI | EVFDGAVIIL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLAPMVASTV | ANGPRSPWDA | ISLIIMLRIW | RVKRVIDAYV | LPVKLEMEMV | IQQYEKAKVI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QDEQLERLTQ | ICQEQGFEIR | QLRAHLAQQD | LDLAAEREAA | LQAPHVLSQP | RSRFKVLEAG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TWDEETAAES | VVEELQPSQE | ATMKDDMNSY | ISQYYNGPSS | DSGVPEPAVC | MVTTAAIDIH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QPNISSDLFS | LDMPLKLGGN | GTSATSESAS | RSSVTRAQSD | SSQTLGSSMD | CSTAREEPSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EPGPSPPPLP | SQQQVEEATV | QDLLSSLSED | PCPSQKALDP | APLARPSPAG | SAQTSPELEH |
| 490 | 500 | 510 | 520 | 530 | |
| RVSLFNQKNQ | EGFTVFQIRP | VIHFQPTVPM | LEDKFRSLES | KEQKLHRVPE | A |