Q9UBN4
PR
Gene name |
TRPC4 |
Protein name |
Short transient receptor potential channel 4 |
Names |
TrpC4, Trp-related protein 4, hTrp-4, hTrp4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7223 |
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 Q9UBN4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UBN4-F1 | Predicted | AlphaFoldDB |
606 variants for Q9UBN4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA174447 RCV000149147 COSM1178775 rs193920981 |
175 | R>C | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs376206930 CA6953827 |
2 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219617641 CA387996591 |
6 | Y>* | No |
ClinGen gnomAD |
|
|
CA387996593 rs1262774565 |
6 | Y>F | No |
ClinGen gnomAD |
|
|
CA6953824 rs115933007 |
6 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA248719870 rs200710008 |
9 | N>K | No |
ClinGen 1000Genomes |
|
|
rs1334311855 CA387996571 |
9 | N>S | No |
ClinGen gnomAD |
|
|
rs1294016582 CA387996560 |
11 | N>H | No |
ClinGen gnomAD |
|
|
CA248719869 rs1052114049 |
12 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755080753 CA6953823 |
13 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1003174918 CA248719868 |
14 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA387996540 rs1003174918 |
14 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 15 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6953821 rs781155424 |
16 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6953820 rs562676517 |
17 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2073035 CA6953819 rs75129764 |
17 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs75129764 CA248719867 |
17 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1166496205 CA387996519 |
18 | I>V | No |
ClinGen gnomAD |
|
|
rs1371854470 CA387996507 |
20 | L>I | No |
ClinGen gnomAD |
|
|
rs1193083488 CA387996502 |
21 | R>G | No |
ClinGen gnomAD |
|
|
CA387996493 rs1593732520 |
22 | I>L | No |
ClinGen Ensembl |
|
|
CA387996491 rs1429530603 |
22 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6953818 rs536515396 |
23 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 24 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387996476 rs1363165324 |
25 | A>T | No |
ClinGen TOPMed |
|
|
CA6953815 rs145847458 |
30 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs145847458 CA248719866 |
30 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs550880741 CA387996432 |
32 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6953813 rs550880741 |
32 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA248719864 rs889647741 |
37 | L>F | No |
ClinGen gnomAD |
|
|
CA387996397 rs777267356 |
37 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953812 rs777267356 |
37 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387996365 rs1268813423 |
41 | E>D | No |
ClinGen TOPMed |
|
|
rs773392584 CA6953809 |
42 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387996359 CA6953808 rs772508523 |
42 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953807 rs748279322 |
45 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA387996325 rs1167884529 |
47 | S>R | No |
ClinGen gnomAD |
|
|
COSM947259 rs1357349109 CA387996311 |
49 | K>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA387996297 rs1462971165 |
51 | S>C | No |
ClinGen gnomAD |
|
|
rs768699503 CA6953805 |
53 | E>A | No |
ClinGen ExAC |
|
|
CA6953803 rs781102182 |
55 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746976893 CA6953801 |
56 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1283540824 CA387996209 |
64 | N>D | No |
ClinGen gnomAD |
|
|
rs1352015556 CA387996167 |
70 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM186902 CA387996141 rs1440971421 |
74 | L>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs752272916 CA6953798 |
75 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953797 rs529416861 |
76 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 84 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408745994 CA387996064 |
85 | L>V | No |
ClinGen TOPMed |
|
|
COSM469409 CA6953796 rs140628205 |
87 | E>K | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387996044 rs1305239054 |
88 | L>V | No |
ClinGen gnomAD |
|
|
rs766002740 CA6953795 |
91 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6953794 rs766002740 |
91 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA387996005 rs1381274157 |
94 | V>I | No |
ClinGen TOPMed |
|
|
CA6953792 rs773801545 |
95 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA387995999 rs1241221373 |
95 | Y>D | No |
ClinGen TOPMed |
|
|
rs1593731640 CA387995988 |
96 | V>A | No |
ClinGen Ensembl |
|
|
rs1350143729 CA387995967 |
99 | A>V | No |
ClinGen TOPMed |
|
|
rs922543589 CA387995965 |
100 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1434549386 CA387995952 |
102 | H>Y | No |
ClinGen gnomAD |
|
|
CA248719855 rs1022155294 |
109 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6953787 rs749513740 |
109 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1366784 CA6953785 rs769881153 |
110 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 111 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210059174 CA387995890 |
111 | A>V | No |
ClinGen gnomAD |
|
|
CA387995883 rs1485898329 |
113 | E>K | No |
ClinGen gnomAD |
|
|
rs746877185 CA6953784 |
114 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758118727 CA6953782 |
116 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292028960 CA387995850 |
118 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387995838 rs1414675457 |
119 | K>R | No |
ClinGen gnomAD |
|
|
CA387995839 rs1414675457 |
119 | K>T | No |
ClinGen gnomAD |
|
|
CA387995825 rs1470489238 |
121 | P>A | No |
ClinGen TOPMed |
|
|
CA6953780 rs370087745 |
122 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 126 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466878332 CA387995766 |
127 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1466878332 CA387995768 |
127 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1336299523 CA387995760 |
128 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571164942 CA248715724 |
130 | I>M | No |
ClinGen 1000Genomes |
|
|
rs1339255854 CA387995746 |
130 | I>T | No |
ClinGen gnomAD |
|
|
CA387995749 rs1433911904 |
130 | I>V | No |
ClinGen TOPMed |
|
|
CA6953753 rs374460466 |
131 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780570099 CA6953751 |
131 | L>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6953752 rs374460466 |
131 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867494377 CA248715722 |
133 | D>N | No |
ClinGen Ensembl |
|
|
rs947372310 CA248715721 |
135 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 136 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_036452 | 138 | E>K | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA387995684 rs1168284229 |
139 | F>L | No |
ClinGen gnomAD |
|
|
CA6953749 rs752079834 |
140 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1257916305 CA387995616 |
150 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 151 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs991463039 CA248715719 |
151 | H>R | No |
ClinGen Ensembl |
|
|
CA387995605 rs1169444968 |
152 | T>A | No |
ClinGen gnomAD |
|
|
CA387995600 rs1452272823 |
152 | T>I | No |
ClinGen gnomAD |
|
|
rs1452272823 CA387995602 |
152 | T>K | No |
ClinGen gnomAD |
|
|
rs1252064584 CA387995582 |
155 | Y>H | No |
ClinGen gnomAD |
|
|
CA6953748 rs764398595 |
156 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1366486478 CA387995575 |
156 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA248715718 rs938742613 |
158 | I>M | No |
ClinGen gnomAD |
|
|
rs755670330 CA248715717 COSM3744160 |
159 | K>N | liver [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA6953747 rs763344584 |
160 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1338086775 COSM1514217 CA387995537 |
161 | L>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6953746 rs752905641 |
163 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6953745 rs765566049 |
163 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759684340 CA6953744 |
164 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6953742 rs770940386 |
169 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387995487 rs1451217859 |
170 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1296547693 CA387995484 |
170 | R>Q | No |
ClinGen gnomAD |
|
|
rs267603819 CA248715714 |
172 | H>L | No |
ClinGen Ensembl |
|
|
CA6953741 rs267603818 |
172 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1593645309 CA387995471 |
173 | E>K | No |
ClinGen Ensembl |
|
|
rs185327688 CA6953739 |
175 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA248715713 rs111702106 |
179 | V>M | No |
ClinGen Ensembl |
|
|
rs1404100956 CA387995405 |
182 | V>E | No |
ClinGen Ensembl |
|
|
CA6953738 rs749151729 |
182 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA387995399 rs1173926644 |
183 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779566010 CA6953737 |
184 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1405268245 CA387995378 |
186 | D>V | No |
ClinGen gnomAD |
|
|
CA387995328 rs1593645109 |
193 | S>L | No |
ClinGen Ensembl |
|
|
COSM1645085 CA6953733 rs756787016 |
194 | R>C | salivary_gland Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6953734 rs756787016 |
194 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389444315 CA387995308 |
197 | L>F | No |
ClinGen TOPMed |
|
|
CA387995304 rs1403132582 |
198 | N>D | No |
ClinGen TOPMed |
|
|
rs201533662 CA6953732 |
198 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199646123 CA6953729 |
203 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387995259 rs1223356704 |
204 | A>T | No |
ClinGen gnomAD |
|
|
CA248715708 rs867675681 |
207 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6953726 rs755182361 |
212 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs267603817 CA387995197 |
214 | E>* | No |
ClinGen Ensembl |
|
|
CA248715707 rs267603817 |
214 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1278026885 CA387995178 |
216 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 217 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387995162 rs1313272633 |
219 | T>A | No |
ClinGen gnomAD |
|
|
CA248715706 rs79170793 |
219 | T>R | No |
ClinGen Ensembl |
|
|
CA6953725 rs373974341 |
220 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6953721 rs764192789 |
233 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259458907 CA387995013 |
239 | S>W | No |
ClinGen TOPMed |
|
|
CA6953719 rs775296494 |
240 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1425455377 CA387994978 |
244 | L>Q | No |
ClinGen TOPMed |
|
|
rs200216544 CA6953716 |
246 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs749684247 CA6953717 |
246 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 248 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270131536 CA387994957 |
248 | C>R | No |
ClinGen gnomAD |
|
|
rs1231465398 CA387994953 |
248 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746592437 CA6953714 |
253 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA387994875 rs1287965364 COSM1470716 |
259 | T>M | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6953712 rs144103505 |
259 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162189805 CA387994853 |
263 | R>G | No |
ClinGen gnomAD |
|
|
CA6953708 rs754071779 |
263 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766569170 CA6953707 |
263 | R>S | No |
ClinGen ExAC gnomAD |
|
|
COSM109299 rs139337255 CA248715702 |
266 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs139337255 CA387994835 |
266 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 270 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6953706 rs149958774 |
272 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs903374931 CA248715700 |
275 | N>H | No |
ClinGen Ensembl |
|
|
rs376247635 CA6953705 |
277 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239748923 CA387994754 |
277 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775317339 CA6953702 |
286 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1273786193 CA387994686 |
287 | A>T | No |
ClinGen gnomAD |
|
|
rs759296018 CA6953700 |
290 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1566139171 CA387994647 |
292 | A>V | No |
ClinGen Ensembl |
|
|
CA387994645 rs1366925427 |
293 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6953699 rs780269340 |
296 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770123359 CA6953698 |
296 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 300 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387884138 rs1334635442 |
305 | N>D | No |
ClinGen gnomAD |
|
|
rs1257648980 CA387884127 |
305 | N>S | No |
ClinGen TOPMed |
|
|
rs1306960008 CA387884091 |
306 | C>F | No |
ClinGen gnomAD |
|
|
CA387884027 rs1372896727 |
309 | L>M | No |
ClinGen gnomAD |
|
|
rs1434416410 CA387884016 |
310 | L>P | No |
ClinGen gnomAD |
|
|
CA6953673 rs780518092 |
311 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6953672 rs147415849 |
313 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA248274461 rs765861318 |
314 | W>* | No |
ClinGen Ensembl |
|
|
CA6953670 rs781609904 |
316 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387883974 rs1421253728 |
317 | E>Q | No |
ClinGen TOPMed |
|
|
CA387883967 rs1182944370 |
318 | F>I | No |
ClinGen gnomAD |
|
|
rs1473547584 CA387883957 |
319 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 324 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111834338 CA248274436 |
325 | H>R | No |
ClinGen Ensembl |
|
|
CA6953668 rs757344136 |
325 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 326 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 326 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387883902 rs1186968152 |
327 | A>T | No |
ClinGen gnomAD |
|
|
CA387883897 rs1593524292 |
327 | A>V | No |
ClinGen Ensembl |
|
|
rs1280357003 CA387883875 COSM551164 |
330 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6953666 rs777925843 |
333 | C>Y | No |
ClinGen ExAC |
|
|
CA6953664 rs753808933 |
334 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs760512871 CA6953662 |
336 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs766134414 CA6953663 |
336 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 340 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387883791 rs1359876575 |
343 | F>L | No |
ClinGen TOPMed |
|
|
CA6953658 rs773676374 |
345 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6953660 rs202061150 |
345 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6953659 rs202061150 |
345 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763327427 CA6953656 |
350 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 353 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 353 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6953654 rs770256915 |
354 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA387883723 COSM947243 rs1415654825 |
354 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA387883716 rs1566100511 |
355 | L>P | No |
ClinGen Ensembl |
|
|
CA6953653 rs746290774 |
356 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA387883707 rs1473024419 |
357 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA387883689 rs1375733463 |
360 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 363 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370520945 CA6953651 |
364 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs747279446 CA6953650 |
375 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777679153 CA6953649 |
375 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA387883538 rs1566100419 |
382 | L>F | No |
ClinGen Ensembl |
|
|
rs749201783 CA387883500 |
387 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA248274237 rs887663479 |
388 | D>A | No |
ClinGen Ensembl |
|
|
CA248274252 rs887663479 |
388 | D>G | No |
ClinGen Ensembl |
|
|
rs1280934318 CA387883499 |
388 | D>N | No |
ClinGen TOPMed |
|
|
CA387883491 rs1175629440 |
389 | R>K | No |
ClinGen gnomAD |
|
|
CA248274231 rs1027332249 |
390 | S>L | No |
ClinGen Ensembl |
|
|
CA387883428 rs1225631106 |
398 | P>Q | No |
ClinGen gnomAD |
|
|
CA387883412 rs1364742157 |
401 | I>V | No |
ClinGen gnomAD |
|
|
rs755900356 CA6953643 |
402 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs544186577 COSM947237 CA6953641 |
403 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs544186577 CA6953642 |
403 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387883382 rs1566100298 |
405 | M>T | No |
ClinGen Ensembl |
|
|
rs1405901864 CA387883371 |
406 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6953623 rs780808911 |
414 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA387881350 rs1394044030 |
414 | I>V | No |
ClinGen gnomAD |
|
|
rs1593484211 CA387881314 |
419 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 422 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378583731 CA387881277 |
423 | D>G | No |
ClinGen TOPMed |
|
|
rs757115113 CA6953622 |
424 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 426 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382936235 CA387881254 |
427 | Q>* | No |
ClinGen TOPMed |
|
|
CA6953619 rs752186191 |
430 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 440 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764865213 CA6953617 |
440 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA387881118 rs1483571868 |
445 | Y>H | No |
ClinGen gnomAD |
|
|
rs760082598 CA6953616 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1278180109 CA387881100 |
447 | A>V | No |
ClinGen gnomAD |
|
|
CA387881087 rs1369789618 |
449 | I>M | No |
ClinGen gnomAD |
|
|
CA387881092 rs1219947865 |
449 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761159308 CA6953613 |
452 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953612 rs115158613 |
453 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387881036 rs1358287040 |
457 | V>A | No |
ClinGen gnomAD |
|
|
CA6953611 rs772217520 |
458 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs200202830 CA248255075 |
460 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767893440 COSM1629091 CA6953593 |
464 | P>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA387880972 rs1208265152 |
465 | R>* | No |
ClinGen gnomAD |
|
|
rs267603816 CA248255070 |
465 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6953592 rs761982098 |
466 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6953591 rs369562161 |
470 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387880909 rs1287711457 |
473 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 473 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6953590 rs138753455 |
474 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387880885 rs1235239730 |
478 | E>Q | No |
ClinGen TOPMed |
|
|
rs1359511917 CA387880864 |
481 | F>L | No |
ClinGen gnomAD |
|
|
rs1482617180 CA387880856 |
482 | A>P | No |
ClinGen TOPMed |
|
|
rs1031106409 CA387880851 |
483 | I>F | No |
ClinGen gnomAD |
|
|
rs1031106409 CA248255059 |
483 | I>V | No |
ClinGen gnomAD |
|
|
CA387880830 rs1253492082 |
486 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 487 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387880801 rs1183338729 |
490 | L>V | No |
ClinGen TOPMed |
|
|
CA248255043 rs771803131 |
492 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 499 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248255005 rs1022027626 |
501 | H>R | No |
ClinGen Ensembl |
|
|
rs1165936640 CA387880733 |
501 | H>Y | No |
ClinGen gnomAD |
|
|
rs772035382 CA6953584 |
504 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA387880663 rs1319980187 |
512 | M>K | No |
ClinGen gnomAD |
|
|
CA6953582 rs778770597 |
513 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA387880638 rs1465579388 |
516 | I>N | No |
ClinGen TOPMed |
|
|
rs779445100 CA6953580 |
517 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs577198890 CA6953576 |
528 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA248254972 rs577198890 |
528 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6953575 COSM947233 rs762213722 |
531 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs894614140 CA248254963 |
536 | Q>* | No |
ClinGen Ensembl |
|
|
rs1366857829 CA387880491 |
538 | Y>S | No |
ClinGen gnomAD |
|
|
rs1034514889 CA248254954 |
539 | F>L | No |
ClinGen Ensembl |
|
|
CA6953574 rs751766544 |
540 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA387880478 rs1388470526 |
540 | Y>H | No |
ClinGen TOPMed |
|
|
rs764362223 CA6953573 |
541 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1301867062 CA387880471 |
541 | Y>H | No |
ClinGen TOPMed |
|
|
rs775578617 CA6953571 |
542 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6953570 rs765252580 |
543 | E>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1171970 CA387880446 rs1369068462 |
544 | T>M | oesophagus central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1369068462 CA387880447 |
544 | T>R | No |
ClinGen gnomAD |
|
|
CA6953567 rs771983959 |
548 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771983959 CA6953568 |
548 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953566 rs748026586 |
551 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs774293301 CA6953565 |
552 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs768299043 CA6953564 |
553 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6953563 rs748917045 |
555 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147982041 CA6953562 |
555 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs75514550 CA387880342 |
559 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781706495 CA6953559 |
560 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1479847783 CA387880337 |
560 | A>V | No |
ClinGen TOPMed |
|
|
CA387880326 rs1193466185 |
562 | S>A | No |
ClinGen TOPMed |
|
|
rs888022556 CA248254863 |
563 | T>A | No |
ClinGen TOPMed |
|
|
rs757614572 CA6953558 |
563 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387879081 rs1478526128 |
564 | L>S | No |
ClinGen TOPMed |
|
|
rs769331269 CA6953544 |
567 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1593444401 CA387879036 |
568 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 569 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA248255122 rs963333918 |
576 | F>L | No |
ClinGen TOPMed |
|
|
rs1593444304 CA387878908 |
579 | I>M | No |
ClinGen Ensembl |
|
|
CA387878916 rs1411230947 |
579 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 581 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6953539 rs550567756 |
583 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 591 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 592 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752951967 CA6953537 |
596 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1464030023 COSM374139 CA387878673 |
600 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1268094780 CA387878668 |
601 | F>L | No |
ClinGen gnomAD |
|
|
CA387878647 rs1229580163 |
603 | T>A | No |
ClinGen gnomAD |
|
|
rs1229580163 CA387878645 |
603 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 606 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331487791 CA387878511 |
615 | M>V | No |
ClinGen TOPMed |
|
|
CA248255083 rs766592442 CA6953533 |
620 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1321258988 CA387878112 |
624 | Y>* | No |
ClinGen gnomAD |
|
|
CA387878103 rs1458776302 |
626 | L>M | No |
ClinGen gnomAD |
|
|
CA6953531 rs751590040 |
627 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA387877997 rs369055871 |
639 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387877994 rs1203390155 |
639 | R>L | No |
ClinGen gnomAD |
|
|
rs1341734735 CA387877958 |
644 | M>I | No |
ClinGen gnomAD |
|
|
rs752376988 CA6953511 |
650 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765102078 CA6953510 |
651 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759147267 CA6953509 |
652 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs770416714 CA6953507 |
657 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 665 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388566994 CA387877725 |
666 | L>I | No |
ClinGen TOPMed |
|
|
rs1005684562 CA248253797 |
671 | K>R | No |
ClinGen Ensembl |
|
|
CA248253791 rs371841269 |
673 | I>M | No |
ClinGen ESP |
|
|
rs952949555 CA248253794 |
673 | I>N | No |
ClinGen Ensembl |
|
|
CA6953505 rs772784345 |
674 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953504 COSM1366752 rs772401617 |
675 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748715808 CA6953503 |
678 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA248253781 rs912670987 |
681 | K>E | No |
ClinGen TOPMed |
|
|
rs779110977 CA6953502 |
681 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6953501 rs769187163 |
682 | M>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 684 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387877434 rs1180561552 |
686 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1180561552 CA387877431 |
686 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs985582715 CA248253772 |
689 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 689 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387877358 rs1197843400 |
691 | T>I | No |
ClinGen TOPMed |
|
|
CA387877352 rs1197843400 |
691 | T>K | No |
ClinGen TOPMed |
|
|
CA6953500 rs749501326 |
692 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs762198056 CA6953484 COSM947226 |
695 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM216301 CA387876429 rs1462685594 |
695 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6953483 rs774973183 |
696 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6953482 rs769126154 |
697 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749733352 CA6953481 |
698 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs749733352 CA387876413 |
698 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6953479 rs770079185 |
700 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA387876374 rs781091186 |
703 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1246303444 CA387876362 |
705 | Q>R | No |
ClinGen gnomAD |
|
|
CA387876356 rs1204765507 |
706 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 706 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385836967 CA387876348 |
707 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1385836967 CA387876349 |
707 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6953476 rs145822753 |
707 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs755628682 CA248249491 |
708 | E>K | No |
ClinGen Ensembl |
|
|
CA6953466 rs774713915 |
710 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA387876317 CA387876315 rs1247761040 |
710 | M>L | No |
ClinGen gnomAD |
|
|
CA387876294 COSM2072888 rs1296246562 |
712 | N>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6953465 rs764626170 |
716 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1349686802 CA387876236 |
718 | V>A | No |
ClinGen gnomAD |
|
|
rs377547600 COSM1366742 CA6953463 |
718 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs368170601 CA387876220 |
720 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368170601 CA6953462 |
720 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 720 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6953460 rs776959389 |
721 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746045444 CA6953461 |
721 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387876198 rs1188067856 |
722 | I>V | No |
ClinGen gnomAD |
|
|
CA6953459 rs770913812 |
723 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA248249460 rs1049413548 |
725 | A>T | No |
ClinGen Ensembl |
|
|
rs555604232 CA6953457 |
726 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749258848 CA6953455 |
727 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6953456 rs749258848 |
727 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs932301230 CA248249437 |
729 | E>D | No |
ClinGen TOPMed |
|
|
CA6953454 rs779797886 |
730 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA387876098 rs1593408450 |
731 | L>R | No |
ClinGen Ensembl |
|
|
rs201872753 CA248249429 |
731 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780962690 CA6953451 |
732 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751051991 CA6953449 |
733 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387876036 rs889013339 |
736 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763716132 CA6953448 |
736 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387876027 rs1357234236 |
737 | K>R | No |
ClinGen TOPMed |
|
|
rs1566058410 CA387875463 |
742 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 742 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387875439 rs1392188955 |
744 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA387875437 rs1392188955 |
744 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387875429 rs1478283981 |
745 | S>N | No |
ClinGen TOPMed |
|
|
COSM1366740 CA6953428 rs765838206 |
747 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6953427 rs759976587 COSM1638228 |
747 | R>H | bone [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1465605750 CA387875355 |
752 | G>R | No |
ClinGen gnomAD |
|
|
CA6953425 rs377554360 |
753 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387875305 rs1444127338 |
757 | S>R | No |
ClinGen TOPMed |
|
|
rs146807006 CA6953424 |
758 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6953422 rs772127889 |
759 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774295967 CA6953420 |
760 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761951483 CA6953421 |
760 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387875275 rs1566058283 |
761 | T>A | No |
ClinGen Ensembl |
|
|
rs745810881 CA6953417 |
762 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs143708525 CA6953418 |
762 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387875248 rs1055947215 |
765 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1327623972 CA387875250 |
765 | A>P | No |
ClinGen gnomAD |
|
|
CA248248584 rs1055947215 |
765 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6953415 rs140911831 |
768 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140911831 CA248248583 |
768 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746638345 CA6953414 |
770 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA387875205 rs1406953638 |
772 | S>A | No |
ClinGen gnomAD |
|
|
rs767662289 CA6953413 |
773 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs186177283 CA6953412 COSM270402 |
774 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6953409 rs755471814 |
776 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953410 rs755471814 |
776 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387875170 rs1366391378 |
778 | D>H | No |
ClinGen gnomAD |
|
|
CA387875146 rs1198304321 |
781 | S>G | No |
ClinGen TOPMed |
|
|
rs766747428 CA6953407 |
781 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1444826619 CA387875129 |
783 | S>N | No |
ClinGen gnomAD |
|
|
CA387875126 rs1244453891 |
783 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756533828 CA387875124 COSM3813783 |
784 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6953406 rs756533828 |
784 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6953405 rs750641378 |
785 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6953404 rs767663885 |
787 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA387875093 rs1353259970 |
788 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA387875088 rs1310105993 |
788 | K>N | No |
ClinGen gnomAD |
|
|
rs1245562107 CA387875081 |
789 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6953403 rs762033326 |
789 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6953402 rs774437900 |
790 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs764107733 CA6953401 |
790 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6953399 COSM947218 rs776480841 |
792 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6953400 rs759483362 |
792 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1413828885 CA387875047 |
794 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 796 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 796 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 797 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387875028 rs1463921335 |
797 | F>L | No |
ClinGen TOPMed |
|
|
CA6953397 rs746865436 |
798 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA387875008 rs1566058000 |
799 | L>F | No |
ClinGen Ensembl |
|
|
CA387875014 rs1593404694 |
799 | L>I | No |
ClinGen Ensembl |
|
|
rs374449501 CA248248528 |
802 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM186853 CA387874971 rs1309076704 |
805 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6953394 rs747833879 |
809 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448318115 CA387874947 |
809 | A>V | No |
ClinGen gnomAD |
|
|
CA387874940 rs1394886513 |
810 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA387874932 rs1194546701 |
812 | S>P | No |
ClinGen gnomAD |
|
|
CA387874915 rs1265711908 |
814 | R>S | No |
ClinGen gnomAD |
|
|
rs754499607 CA6953392 |
814 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953391 rs749793317 |
815 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM947214 rs1473140410 CA387874888 |
818 | S>N | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 821 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 822 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750725107 CA6953386 |
826 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1186040432 CA387874830 |
827 | E>A | No |
ClinGen gnomAD |
|
|
rs548518449 CA6953385 |
827 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387874833 rs1370326116 |
827 | E>K | No |
ClinGen gnomAD |
|
|
CA6953384 rs757426391 |
828 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287816449 CA387874821 |
829 | P>T | No |
ClinGen TOPMed |
|
|
rs1194278405 CA387874760 |
837 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 839 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262469554 CA387874731 |
841 | D>G | No |
ClinGen TOPMed |
|
|
CA387874735 rs1593404265 |
841 | D>N | No |
ClinGen Ensembl |
|
|
CA387874721 rs762999927 |
842 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953380 rs776624866 |
843 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 845 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387874703 rs1169073803 |
845 | F>V | No |
ClinGen gnomAD |
|
|
CA387874694 rs1435897409 |
846 | G>E | No |
ClinGen gnomAD |
|
|
CA6953379 rs151049307 |
847 | L>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1272142050 CA387874684 |
848 | F>L | No |
ClinGen gnomAD |
|
|
CA387874675 rs1160907088 |
849 | H>Y | No |
ClinGen TOPMed |
|
|
rs773103339 CA6953377 |
851 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6953376 rs772033202 |
851 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA387874661 rs772033202 |
851 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387874627 rs1490605916 |
856 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA387874624 rs1271380541 |
856 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6953375 rs761506347 |
858 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 859 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs576235368 CA248248403 |
860 | N>Y | No |
ClinGen Ensembl |
|
|
rs773936303 CA6953374 |
861 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768211571 CA6953373 |
862 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1342870886 CA387874566 |
865 | F>V | No |
ClinGen gnomAD |
|
|
CA248248392 rs534937697 |
866 | S>A | No |
ClinGen Ensembl |
|
|
CA6953371 rs1555247540 |
866 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs2957221 CA248248359 |
869 | E>K | No |
ClinGen gnomAD |
|
|
CA387874522 rs1566057654 |
871 | V>A | No |
ClinGen Ensembl |
|
|
rs531504926 CA6953369 |
871 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770234760 CA6953367 COSM947208 |
872 | A>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA387874516 rs1357809669 |
872 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6953366 rs375645285 |
873 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142683062 CA6953365 |
873 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 874 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6953364 rs751793234 |
876 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751793234 CA6953363 |
876 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912360920 CA6953361 |
877 | A>S | No |
ClinGen Ensembl |
|
|
CA387874478 rs35836067 |
879 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953358 rs35836067 |
879 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953359 rs114600063 |
879 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6953360 rs114600063 |
879 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765439306 CA6953357 |
880 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA387874475 rs1593403598 |
880 | L>P | No |
ClinGen Ensembl |
|
|
rs545536923 CA248248335 |
881 | E>K | No |
ClinGen 1000Genomes |
|
|
CA387874457 rs1184929122 |
883 | N>H | No |
ClinGen TOPMed |
|
|
CA6953356 rs760658714 |
884 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233666801 CA387874421 |
885 | Q>H | No |
ClinGen gnomAD |
|
|
CA248248321 rs1021535583 |
887 | E>V | No |
ClinGen Ensembl |
|
|
rs1440750564 CA387874389 |
888 | S>C | No |
ClinGen gnomAD |
|
|
CA6953354 rs373986502 |
889 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA387874381 rs761582713 |
889 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA387874383 rs761582713 |
889 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6953353 rs761582713 |
889 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147399086 CA248248310 CA6953352 |
890 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA387874356 rs1593403415 |
892 | A>V | No |
ClinGen Ensembl |
|
|
rs1325515613 CA387874347 |
893 | S>A | No |
ClinGen gnomAD |
|
|
rs370995069 CA6953350 |
894 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs958351197 CA387874337 |
894 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6953348 rs769331202 |
895 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387874321 rs1336768063 |
896 | D>N | No |
ClinGen gnomAD |
|
|
CA387874279 rs1593403246 |
899 | I>T | No |
ClinGen Ensembl |
|
|
rs1400463054 CA387874259 |
901 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6953344 rs747269770 |
901 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1400463054 CA387874263 |
901 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1179193884 CA387874252 |
902 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs758509700 CA387874244 |
903 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758509700 CA6953342 |
903 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753008221 CA6953340 |
904 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1462641790 CA387874231 |
904 | E>Q | No |
ClinGen gnomAD |
|
|
CA248248220 rs200985201 |
905 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA6953339 rs555606878 |
905 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755167746 CA6953338 |
907 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412923741 CA387874193 |
907 | V>L | No |
ClinGen gnomAD |
|
|
CA387874179 rs1226285695 |
908 | L>S | No |
ClinGen gnomAD |
|
|
CA248248204 rs377352848 |
909 | V>A | No |
ClinGen ESP |
|
|
rs761827542 CA6953335 |
911 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA6953333 rs763977564 |
912 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA6953331 rs775168860 |
913 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775168860 CA6953332 |
913 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387874112 rs140515294 |
914 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs140515294 CA6953330 |
914 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776121635 CA6953328 |
916 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs887382142 CA248248144 |
918 | T>I | No |
ClinGen Ensembl |
|
|
rs1422991684 CA387874070 |
918 | T>S | No |
ClinGen gnomAD |
|
|
CA387874064 rs747573040 |
919 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953325 rs772536839 |
919 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772536839 CA6953324 |
919 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747573040 CA6953326 |
919 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048621556 CA248248137 |
920 | G>E | No |
ClinGen Ensembl |
|
|
rs369573111 CA6953323 |
922 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6953321 rs377601240 |
925 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6953320 rs149495867 |
925 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757099137 CA6953319 |
926 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs757099137 CA6953318 |
926 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA387873981 rs1292016403 |
927 | V>A | No |
ClinGen gnomAD |
|
|
CA6953316 rs763771971 |
927 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6953315 rs758268382 |
928 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387873948 rs1593402576 |
930 | F>S | No |
ClinGen Ensembl |
|
|
rs1294186325 CA387873940 |
931 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 932 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363202597 CA387873936 |
932 | S>T | No |
ClinGen gnomAD |
|
|
rs1291060620 CA387873918 |
934 | K>R | No |
ClinGen gnomAD |
|
|
CA387873874 rs1303962047 |
939 | D>N | No |
ClinGen gnomAD |
|
|
rs1039808683 CA248248087 |
940 | T>M | No |
ClinGen Ensembl |
|
|
CA387873847 rs1318115948 |
941 | V>A | No |
ClinGen TOPMed |
|
|
CA248248084 rs961720518 |
941 | V>F | No |
ClinGen TOPMed |
|
|
rs1371435993 CA387873843 |
942 | P>A | No |
ClinGen gnomAD |
|
|
rs1221764839 CA387873827 |
943 | I>T | No |
ClinGen gnomAD |
|
|
CA6953312 rs764801537 |
943 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429059109 CA387873817 |
944 | I>T | No |
ClinGen gnomAD |
|
|
CA387873810 rs1348947932 |
945 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1421569018 CA387873788 |
947 | E>K | No |
ClinGen gnomAD |
|
|
CA387873755 rs1197065409 |
949 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1490119975 CA387873751 |
949 | H>Q | No |
ClinGen gnomAD |
|
|
CA387873757 rs1197065409 |
949 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6953311 rs759200338 |
950 | A>V | No |
ClinGen ExAC |
|
|
CA387873740 rs1224292006 |
951 | K>E | No |
ClinGen gnomAD |
|
|
rs765955192 CA6953309 |
953 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1078018 CA248248071 |
953 | E>K | No |
ClinGen Ensembl |
|
|
CA387873692 rs1227504395 |
954 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387873696 rs1250282999 |
954 | D>G | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761065349 CA6953308 |
955 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137894841 CA6953307 |
956 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387873658 rs1426260671 |
957 | I>R | No |
ClinGen TOPMed |
|
|
CA6953306 rs73184536 |
957 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387873649 rs748459863 |
958 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953305 rs748459863 |
958 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6953304 rs141992489 |
959 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387873630 rs1406994345 |
960 | D>H | No |
ClinGen gnomAD |
|
|
CA387873616 rs1294204833 |
961 | L>I | No |
ClinGen TOPMed |
|
|
rs1566056615 CA387873557 |
966 | T>R | No |
ClinGen Ensembl |
|
|
rs368935024 CA6953301 |
968 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756263073 CA6953300 |
969 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs958361021 CA248248031 |
971 | D>E | No |
ClinGen Ensembl |
|
|
rs1323160049 CA387873483 |
972 | Y>* | No |
ClinGen TOPMed |
|
|
rs1275900543 CA387873492 |
972 | Y>D | No |
ClinGen TOPMed |
|
|
rs777830902 CA6953298 |
973 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6953299 rs777830902 |
973 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1264384081 CA387873473 |
974 | T>A | No |
ClinGen TOPMed |
|
|
CA6953297 rs758336075 |
974 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478349161 CA387873437 |
977 | L>S | No |
ClinGen TOPMed |
No associated diseases with Q9UBN4
4 regional properties for Q9UBN4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 69 - 98 | IPR002110-1 |
| repeat | Ankyrin repeat | 141 - 173 | IPR002110-2 |
| domain | Ion transport domain | 374 - 631 | IPR005821 |
| domain | Transient receptor ion channel domain | 176 - 238 | IPR013555 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| calcium channel complex | An ion channel complex through which calcium ions pass. |
| cation channel complex | An ion channel complex through which cations pass. |
| caveola | A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cortical cytoskeleton | The portion of the cytoskeleton that lies just beneath the plasma membrane. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| beta-catenin binding | Binding to a catenin beta subunit. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calcium channel activity | Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| inositol 1,4,5 trisphosphate binding | Binding to inositol 1,4,5 trisphosphate. |
| store-operated calcium channel activity | A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion import | The directed movement of calcium ions into a cell or organelle. |
| calcium ion transmembrane transport | A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| calcium ion transport | The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| gamma-aminobutyric acid secretion | The regulated release of gamma-aminobutyric acid by a cell or a tissue. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues. |
| manganese ion transport | The directed movement of manganese (Mn) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| oligodendrocyte differentiation | The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system. |
| regulation of cytosolic calcium ion concentration | Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O18784 | TRPC1 | Short transient receptor potential channel 1 | Bos taurus (Bovine) | PR |
| P79100 | TRPC4 | Short transient receptor potential channel 4 | Bos taurus (Bovine) | PR |
| P19334 | trp | Transient receptor potential protein | Drosophila melanogaster (Fruit fly) | PR |
| P48994 | trpl | Transient-receptor-potential-like protein | Drosophila melanogaster (Fruit fly) | PR |
| Q9HCX4 | TRPC7 | Short transient receptor potential channel 7 | Homo sapiens (Human) | PR |
| Q13507 | TRPC3 | Short transient receptor potential channel 3 | Homo sapiens (Human) | PR |
| Q9Y210 | TRPC6 | Short transient receptor potential channel 6 | Homo sapiens (Human) | PR |
| P48995 | TRPC1 | Short transient receptor potential channel 1 | Homo sapiens (Human) | PR |
| Q9UL62 | TRPC5 | Short transient receptor potential channel 5 | Homo sapiens (Human) | PR |
| Q9WVC5 | Trpc7 | Short transient receptor potential channel 7 | Mus musculus (Mouse) | PR |
| Q9QZC1 | Trpc3 | Short transient receptor potential channel 3 | Mus musculus (Mouse) | PR |
| Q9QX29 | Trpc5 | Short transient receptor potential channel 5 | Mus musculus (Mouse) | PR |
| Q61143 | Trpc6 | Short transient receptor potential channel 6 | Mus musculus (Mouse) | PR |
| Q9R244 | Trpc2 | Short transient receptor potential channel 2 | Mus musculus (Mouse) | PR |
| Q61056 | Trpc1 | Short transient receptor potential channel 1 | Mus musculus (Mouse) | PR |
| Q9QUQ5 | Trpc4 | Short transient receptor potential channel 4 | Mus musculus (Mouse) | PR |
| Q9QX01 | Trpc1 | Short transient receptor potential channel 1 | Rattus norvegicus (Rat) | PR |
| Q9JMI9 | Trpc3 | Short transient receptor potential channel 3 | Rattus norvegicus (Rat) | PR |
| Q9R283 | Trpc2 | Short transient receptor potential channel 2 | Rattus norvegicus (Rat) | PR |
| O35119 | Trpc4 | Short transient receptor potential channel 4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQFYYKRNV | NAPYRDRIPL | RIVRAESELS | PSEKAYLNAV | EKGDYASVKK | SLEEAEIYFK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ININCIDPLG | RTALLIAIEN | ENLELIELLL | SFNVYVGDAL | LHAIRKEVVG | AVELLLNHKK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PSGEKQVPPI | LLDKQFSEFT | PDITPIILAA | HTNNYEIIKL | LVQKGVSVPR | PHEVRCNCVE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CVSSSDVDSL | RHSRSRLNIY | KALASPSLIA | LSSEDPFLTA | FQLSWELQEL | SKVENEFKSE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YEELSRQCKQ | FAKDLLDQTR | SSRELEIILN | YRDDNSLIEE | QSGNDLARLK | LAIKYRQKEF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAQPNCQQLL | ASRWYDEFPG | WRRRHWAVKM | VTCFIIGLLF | PVFSVCYLIA | PKSPLGLFIR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KPFIKFICHT | ASYLTFLFLL | LLASQHIDRS | DLNRQGPPPT | IVEWMILPWV | LGFIWGEIKQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MWDGGLQDYI | HDWWNLMDFV | MNSLYLATIS | LKIVAFVKYS | ALNPRESWDM | WHPTLVAEAL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FAIANIFSSL | RLISLFTANS | HLGPLQISLG | RMLLDILKFL | FIYCLVLLAF | ANGLNQLYFY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YEETKGLTCK | GIRCEKQNNA | FSTLFETLQS | LFWSIFGLIN | LYVTNVKAQH | EFTEFVGATM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FGTYNVISLV | VLLNMLIAMM | NNSYQLIADH | ADIEWKFART | KLWMSYFEEG | GTLPTPFNVI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PSPKSLWYLI | KWIWTHLCKK | KMRRKPESFG | TIGRRAADNL | RRHHQYQEVM | RNLVKRYVAA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MIRDAKTEEG | LTEENFKELK | QDISSFRFEV | LGLLRGSKLS | TIQSANASKE | SSNSADSDEK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SDSEGNSKDK | KKNFSLFDLT | TLIHPRSAAI | ASERHNISNG | SALVVQEPPR | EKQRKVNFVT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DIKNFGLFHR | RSKQNAAEQN | ANQIFSVSEE | VARQQAAGPL | ERNIQLESRG | LASRGDLSIP |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GLSEQCVLVD | HRERNTDTLG | LQVGKRVCPF | KSEKVVVEDT | VPIIPKEKHA | KEEDSSIDYD |
| 970 | |||||
| LNLPDTVTHE | DYVTTRL |