Q5T3F8
PR
Gene name |
TMEM63B (C6orf110) |
Protein name |
CSC1-like protein 2 |
Names |
Transmembrane protein 63B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55362 |
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
2 structures for Q5T3F8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8EHX | EM | 360 A | A | 1-832 | PDB |
| AF-Q5T3F8-F1 | Predicted | AlphaFoldDB |
434 variants for Q5T3F8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1450513195 CA364294339 |
5 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA364294370 rs1331523731 |
8 | T>A | No |
ClinGen TOPMed |
|
|
rs1364143713 CA364294394 |
10 | G>R | No |
ClinGen gnomAD |
|
|
rs1174274108 CA364294413 |
11 | T>I | No |
ClinGen TOPMed |
|
|
rs759200527 CA3829627 |
14 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs759200527 CA3829628 |
14 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1193223972 CA364294482 |
17 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 18 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388732110 CA364294525 |
20 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1303796295 CA364294580 |
24 | Y>H | No |
ClinGen gnomAD |
|
|
CA364294598 rs757914591 |
25 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138348124 rs920629099 |
26 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs373885165 CA3829631 |
28 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA364294629 rs1306809835 |
29 | R>G | No |
ClinGen gnomAD |
|
|
CA364294633 rs1317863597 |
29 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1002049128 CA138348128 |
32 | V>G | No |
ClinGen Ensembl |
|
|
CA3829634 rs528583289 |
37 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364294746 rs1582767057 |
40 | G>C | No |
ClinGen Ensembl |
|
|
rs1181353143 CA364294755 |
41 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1420636219 CA364294785 |
44 | V>M | No |
ClinGen gnomAD |
|
|
CA138348165 rs200529153 |
48 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3829640 rs773124051 |
50 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1367515294 CA364294849 |
50 | M>T | No |
ClinGen gnomAD |
|
|
rs772159167 CA3829639 |
50 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3829641 rs746988975 |
53 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1374623087 CA364294874 |
53 | L>P | No |
ClinGen gnomAD |
|
|
CA3829654 rs756706166 |
54 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364294960 rs1562116478 |
59 | F>L | No |
ClinGen Ensembl |
|
|
rs1562116486 CA364294973 |
60 | S>A | No |
ClinGen Ensembl |
|
|
rs1169775963 CA364294990 |
61 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA138348368 rs961980645 |
63 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 71 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3829658 rs200084588 |
74 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1405798737 CA364295186 |
79 | D>E | No |
ClinGen gnomAD |
|
|
rs371238478 CA3829680 |
82 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371238478 CA3829681 |
82 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141913453 CA3829679 COSM1444783 |
82 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3829685 rs146320190 |
83 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146320190 CA3829684 |
83 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3829683 rs146320190 |
83 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3829682 rs751719789 |
83 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364295278 rs1392827780 |
85 | E>D | No |
ClinGen TOPMed |
|
|
CA3829686 rs769673220 |
86 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148306805 CA364295305 |
88 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148306805 CA364295303 |
88 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364295308 rs375760449 |
88 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3829688 rs375760449 |
88 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 90 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3829690 rs773850038 |
91 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs773850038 CA3829691 |
91 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3829692 rs771736691 |
91 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3829693 rs370367231 |
92 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364295732 rs1437690176 |
94 | V>L | No |
ClinGen gnomAD |
|
|
CA138349530 rs376470724 |
95 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA364295766 rs1356923541 |
97 | A>S | No |
ClinGen TOPMed |
|
|
CA3829715 rs531946658 |
98 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364295795 rs1419163499 |
99 | H>P | No |
ClinGen TOPMed |
|
|
rs774651634 CA364295802 |
99 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138349537 rs934631039 |
99 | H>Y | No |
ClinGen TOPMed |
|
|
CA364295808 rs1206382668 |
100 | G>A | No |
ClinGen gnomAD |
|
|
CA3829717 rs762039391 |
100 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364295816 rs1258014961 |
101 | D>A | No |
ClinGen TOPMed |
|
|
CA364295814 rs1562118201 |
101 | D>N | No |
ClinGen Ensembl |
|
|
rs1258014961 CA364295818 |
101 | D>V | No |
ClinGen TOPMed |
|
|
rs1395692715 CA364295841 |
103 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3829719 rs750572327 |
105 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767663908 CA3829718 |
105 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364295874 rs1205622375 |
107 | E>K | No |
ClinGen Ensembl |
|
|
rs1183211818 COSM1176462 CA364295888 |
108 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3829721 rs766375617 |
108 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364295922 rs1314607637 |
111 | S>F | No |
ClinGen gnomAD |
|
|
rs866230781 CA138349590 |
112 | V>A | No |
ClinGen Ensembl |
|
|
CA364295966 rs1357721584 |
116 | V>A | No |
ClinGen TOPMed |
|
|
CA3829724 rs778862593 |
116 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294359738 CA364295996 |
119 | D>N | No |
ClinGen TOPMed |
|
|
CA364296009 rs1413770731 |
120 | Q>E | No |
ClinGen TOPMed |
|
|
CA3829726 rs747884737 |
120 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364296495 rs1435247492 |
124 | G>V | No |
ClinGen TOPMed |
|
|
rs1176963130 CA364296496 |
125 | F>I | No |
ClinGen gnomAD |
|
|
CA3829750 rs375288536 |
126 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1198221210 CA364296523 |
127 | S>P | No |
ClinGen TOPMed |
|
|
CA3829752 rs745320313 |
130 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA364296699 rs1424634904 |
137 | D>E | No |
ClinGen gnomAD |
|
|
CA3829772 rs755585313 |
137 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364296692 rs1160596226 |
137 | D>N | No |
ClinGen gnomAD |
|
|
CA364296702 rs1304258626 |
138 | D>N | No |
ClinGen gnomAD |
|
|
rs756345908 CA3829773 |
141 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3829774 rs201619627 |
142 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364296798 COSM3777703 rs1336041101 |
147 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA364296819 rs1241863012 |
148 | A>V | No |
ClinGen gnomAD |
|
|
rs778002704 CA3829776 |
149 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1426847400 CA364296820 |
149 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs370893644 CA3829782 |
156 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144454929 CA3829781 |
156 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3829783 rs762999319 CA364296933 |
160 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3829786 rs761659717 |
163 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1298029595 CA364296982 |
165 | V>L | No |
ClinGen gnomAD |
|
|
rs750117918 CA3829788 |
167 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1643087 rs765884785 CA3829791 |
170 | V>I | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765884785 CA3829790 |
170 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs758969385 CA3829792 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1224787005 CA364297055 |
173 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA138351992 rs200560167 |
175 | P>H | No |
ClinGen 1000Genomes |
|
| TCGA novel | 175 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364297085 rs1490545028 |
176 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 178 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 183 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768754994 CA3829819 |
189 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA364297269 rs1288874145 |
190 | F>S | No |
ClinGen gnomAD |
|
|
CA364297306 rs1403014743 |
194 | T>A | No |
ClinGen gnomAD |
|
|
rs748124949 CA3829821 |
195 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220691074 CA364297337 |
197 | N>S | No |
ClinGen gnomAD |
|
|
rs1281033162 CA364297350 |
198 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 203 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364297730 rs1302019812 |
206 | W>R | No |
ClinGen TOPMed |
|
|
CA3829834 rs780469055 |
208 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780469055 CA364297749 |
208 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582789489 CA364297760 |
209 | T>P | No |
ClinGen Ensembl |
|
|
rs754148734 CA3829835 |
211 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364297788 rs1326682720 |
212 | A>P | No |
ClinGen gnomAD |
|
|
CA364297798 rs1158672721 |
213 | F>V | No |
ClinGen gnomAD |
|
|
COSM1229721 rs748166685 CA3829838 |
220 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364297882 rs1243879139 |
223 | M>T | No |
ClinGen gnomAD |
|
|
CA364297904 rs1400102995 |
226 | H>R | No |
ClinGen TOPMed |
|
|
CA3829839 COSM177403 rs772116518 |
231 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3829840 rs777658188 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781486617 CA3829842 |
235 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364298000 rs1430990954 |
235 | D>G | No |
ClinGen TOPMed |
|
|
rs1437632626 CA364297998 |
235 | D>Y | No |
ClinGen gnomAD |
|
|
rs774305747 CA138355612 |
240 | R>Q | No |
ClinGen gnomAD |
|
|
CA364298134 rs1164901180 |
244 | I>M | No |
ClinGen gnomAD |
|
|
CA364298136 rs1435170394 |
245 | N>D | No |
ClinGen gnomAD |
|
|
rs1440430681 CA364298215 |
256 | I>V | No |
ClinGen gnomAD |
|
|
CA364298256 rs1562124830 |
261 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 262 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364298285 rs1184854993 |
263 | A>G | No |
ClinGen TOPMed |
|
|
rs1237337390 CA364298297 |
265 | P>A | No |
ClinGen Ensembl |
|
|
CA3829897 rs767536605 |
265 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364298298 rs767536605 |
265 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750345515 CA3829898 |
266 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364298328 rs1427242330 |
270 | L>V | No |
ClinGen gnomAD |
|
|
rs377063465 CA3829900 |
273 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753677060 CA3829901 |
274 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA138360455 rs759976564 |
278 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1304021232 CA364298401 |
280 | R>C | No |
ClinGen gnomAD |
|
|
rs771732590 CA3829905 |
280 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3829907 rs746366319 |
281 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3829909 rs775775376 |
285 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372358986 CA364298470 |
286 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1407327567 CA364298587 |
291 | A>G | No |
ClinGen TOPMed |
|
|
CA3829928 rs770270376 |
292 | E>K | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 294 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3829930 rs749699692 |
296 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138360768 rs967077641 |
303 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs774653718 CA3829932 |
303 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3829933 rs762023257 |
306 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3829935 VAR_031192 rs4714759 |
307 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA364298797 rs1480751593 |
310 | M>V | No |
ClinGen TOPMed |
|
|
CA3829936 rs760779927 |
311 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3829937 rs766280091 |
312 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1374861073 CA364298851 |
314 | K>R | No |
ClinGen gnomAD |
|
|
rs370992528 CA3829940 |
315 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3829941 rs752482974 |
316 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA364298892 rs1227073928 |
318 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA364298894 rs1227073928 |
318 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA364298904 rs1322723396 |
319 | L>F | No |
ClinGen gnomAD |
|
|
rs1235986842 CA364298935 |
321 | C>Y | No |
ClinGen gnomAD |
|
|
CA3829943 rs763797090 |
323 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs571208423 CA138360850 |
324 | V>M | No |
ClinGen 1000Genomes |
|
|
CA364298987 rs1239431378 |
325 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3829945 COSM3430704 rs375893055 |
325 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1162608971 CA364299012 |
328 | E>K | No |
ClinGen gnomAD |
|
|
CA364299176 rs1199444892 |
330 | V>E | No |
ClinGen gnomAD |
|
|
CA364299173 rs1182514792 |
330 | V>M | No |
ClinGen TOPMed |
|
|
CA3829969 rs758815326 |
331 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs930971736 CA138361350 |
332 | A>T | No |
ClinGen TOPMed |
|
|
CA364299189 rs1444104814 |
332 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 333 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364299258 rs1263696862 |
342 | K>E | No |
ClinGen TOPMed |
|
|
rs747261100 CA3829971 |
347 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1478044589 CA364299305 |
348 | K>R | No |
ClinGen gnomAD |
|
|
CA364299310 rs374798696 |
349 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374798696 CA3829973 |
349 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771219805 CA3829972 |
349 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA364299318 rs1172138532 |
350 | E>D | No |
ClinGen gnomAD |
|
|
rs1477157461 CA364299312 |
350 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 351 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3829975 rs769892143 |
359 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA364299391 rs775474178 |
361 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3829976 rs775474178 |
361 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3829978 rs763977721 |
364 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1582814233 CA364299420 |
365 | T>P | No |
ClinGen Ensembl |
|
|
rs1329062363 CA364299443 |
368 | N>S | No |
ClinGen gnomAD |
|
|
rs761536982 CA3829980 |
370 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3829982 rs773861565 |
371 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773861565 CA3829983 |
371 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364299466 rs1582814333 |
372 | T>P | No |
ClinGen Ensembl |
|
|
rs771763831 CA3829998 |
378 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355412886 CA364299540 |
381 | V>M | No |
ClinGen gnomAD |
|
|
CA364299566 rs1582814746 |
384 | C>S | No |
ClinGen Ensembl |
|
| TCGA novel | 384 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765878916 CA3830001 |
385 | Q>H | No |
ClinGen ExAC |
|
|
CA3830000 rs760285563 |
385 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3830003 rs763575879 |
387 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs868752659 CA138361691 |
388 | T>I | No |
ClinGen gnomAD |
|
|
rs764506412 CA3830004 |
388 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA138361693 rs745439520 |
390 | R>C | No |
ClinGen Ensembl |
|
|
rs761242537 CA3830005 |
390 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143307278 CA3830006 |
394 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3830007 rs781648674 |
394 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs936134067 CA138361708 |
395 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 399 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372877250 CA3830009 |
400 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421309541 CA364299670 |
401 | S>P | No |
ClinGen TOPMed |
|
|
CA364299702 rs1178527264 |
406 | N>D | No |
ClinGen TOPMed |
|
|
rs201065300 CA3830012 |
406 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201065300 CA3830013 |
406 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1045696627 CA138361740 |
409 | V>M | No |
ClinGen TOPMed |
|
|
rs1252746747 CA364299731 |
410 | S>C | No |
ClinGen TOPMed |
|
|
CA3830015 rs771888770 |
419 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA364299889 rs1582815583 |
422 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 426 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3830034 rs377671657 |
426 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777602997 CA3830035 |
429 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA364300007 rs1373983293 |
433 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA364300008 rs1401068794 |
433 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1582815719 CA364300041 |
436 | V>G | No |
ClinGen Ensembl |
|
|
CA364300036 rs1429920879 |
436 | V>L | No |
ClinGen gnomAD |
|
|
rs745473514 CA3830039 |
438 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA364300080 rs775072250 |
440 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3830041 rs775072250 |
440 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3830043 rs768120770 |
444 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1298570462 CA364300133 |
446 | F>S | No |
ClinGen gnomAD |
|
|
rs1582815845 CA364300151 |
449 | T>P | No |
ClinGen Ensembl |
|
|
CA364300157 rs1582815856 |
450 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 457 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364300283 rs1283100760 |
462 | N>S | No |
ClinGen gnomAD |
|
|
CA3830049 rs765250411 |
471 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1284032967 CA364300665 |
474 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1231624981 CA364300689 |
475 | I>V | No |
ClinGen TOPMed |
|
|
CA364300782 rs1195917539 |
481 | T>N | No |
ClinGen gnomAD |
|
|
CA364300775 rs1582819212 |
481 | T>P | No |
ClinGen Ensembl |
|
|
CA3830096 rs750222405 |
485 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs952840974 CA138362605 |
486 | C>F | No |
ClinGen gnomAD |
|
|
rs1486548347 CA364300895 |
488 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364300903 rs1421820231 |
489 | A>T | No |
ClinGen gnomAD |
|
|
CA364300970 rs1286301547 |
493 | T>A | No |
ClinGen TOPMed |
|
|
rs4714762 CA138362626 |
494 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA138362638 rs113782915 |
497 | Y>C | No |
ClinGen Ensembl |
|
|
rs1421722280 CA364301091 |
500 | F>S | No |
ClinGen gnomAD |
|
|
CA364301122 rs1245487989 |
502 | E>K | No |
ClinGen TOPMed |
|
|
CA364301150 rs1412773758 |
503 | A>D | No |
ClinGen gnomAD |
|
|
CA364301198 rs1312806235 |
506 | T>I | No |
ClinGen gnomAD |
|
|
CA138362661 rs907823038 |
507 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364302075 rs1458211650 |
513 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 516 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364302111 rs1237499019 |
516 | H>R | No |
ClinGen TOPMed |
|
|
rs749648741 CA3830128 |
520 | T>I | No |
ClinGen ExAC |
|
|
rs1202112254 CA364302179 |
522 | L>F | No |
ClinGen TOPMed |
|
|
rs1388181985 CA364302187 |
523 | I>V | No |
ClinGen gnomAD |
|
|
CA364302213 rs1280959684 |
525 | M>V | No |
ClinGen TOPMed |
|
|
CA138362924 rs4487574 |
526 | V>G | No |
ClinGen Ensembl |
|
|
rs1561821415 CA364302308 |
531 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1449091333 CA364302374 |
536 | S>C | No |
ClinGen TOPMed |
|
|
CA3830148 COSM1229720 rs779104826 |
542 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3830149 rs748417427 COSM1444786 |
542 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 549 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367546125 CA3830152 |
551 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3830153 rs771041777 |
554 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485566045 CA364302636 |
555 | I>V | No |
ClinGen gnomAD |
|
|
CA138363057 rs1030812628 |
556 | R>Q | No |
ClinGen TOPMed |
|
|
CA3830180 rs761411626 |
570 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs767016232 CA3830181 |
573 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364302920 rs1459697568 |
574 | I>V | No |
ClinGen TOPMed |
|
|
CA364303059 rs1582825462 |
584 | D>A | No |
ClinGen Ensembl |
|
|
CA364303068 rs1235805691 |
585 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 586 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195428553 CA364303092 |
587 | R>L | No |
ClinGen gnomAD |
|
|
CA364303139 rs1213409987 |
592 | L>F | No |
ClinGen TOPMed |
|
|
CA3830190 rs781477010 |
593 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3830189 rs751839248 CA364303147 |
593 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423401668 CA364303151 |
593 | M>T | No |
ClinGen gnomAD |
|
|
CA3830188 rs751839248 |
593 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364303177 rs1324030345 |
595 | M>R | No |
ClinGen gnomAD |
|
|
rs1324030345 CA364303176 |
595 | M>T | No |
ClinGen gnomAD |
|
|
CA3830193 rs531124334 |
600 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs954585071 CA138363769 |
603 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs954585071 CA364303271 |
603 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA364303319 rs1582825779 |
606 | E>D | No |
ClinGen Ensembl |
|
|
CA3830198 rs771710557 |
608 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA364303344 rs1211456301 |
608 | R>H | No |
ClinGen gnomAD |
|
|
CA364303372 rs1468561766 |
610 | V>M | No |
ClinGen gnomAD |
|
|
rs1423913836 CA364303400 |
611 | K>R | No |
ClinGen gnomAD |
|
|
CA3830201 rs760082768 |
612 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA364304445 rs1430882835 |
613 | H>Y | No |
ClinGen gnomAD |
|
|
rs745336191 CA3830243 |
616 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1271430536 CA364304519 |
616 | Y>H | No |
ClinGen gnomAD |
|
|
rs1349828939 CA364304544 |
617 | E>A | No |
ClinGen gnomAD |
|
|
CA138364203 rs200155667 |
617 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA364304720 rs1293494491 |
627 | M>K | No |
ClinGen TOPMed |
|
|
rs1452592373 CA364304741 |
628 | M>I | No |
ClinGen gnomAD |
|
|
CA3830248 rs773566591 |
628 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs766594136 CA3830250 |
630 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364304796 rs1431296279 COSM1444787 |
632 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1318354965 CA364304848 |
636 | T>I | No |
ClinGen TOPMed |
|
|
rs752639714 CA3830254 |
637 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1582829308 CA364304895 |
640 | T>P | No |
ClinGen Ensembl |
|
|
CA138364294 rs865802074 |
641 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 644 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3830260 rs745464900 |
645 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs752913675 CA3830259 |
645 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1451427618 CA364305081 |
650 | M>L | No |
ClinGen gnomAD |
|
| TCGA novel | 651 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353867287 CA364305107 |
652 | M>L | No |
ClinGen gnomAD |
|
|
rs1353867287 CA364305109 |
652 | M>V | No |
ClinGen gnomAD |
|
|
CA138364881 rs958449778 |
653 | L>V | No |
ClinGen TOPMed |
|
|
rs1248109436 CA364305133 |
654 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 656 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364305169 rs1185367112 |
658 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 658 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3830287 rs776926921 |
660 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs577612154 CA3830288 |
661 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1251293595 CA364305185 |
661 | Y>N | No |
ClinGen gnomAD |
|
|
CA138364890 rs868112365 |
663 | L>F | No |
ClinGen gnomAD |
|
|
CA364305201 rs868112365 |
663 | L>V | No |
ClinGen gnomAD |
|
|
rs775590194 CA3830290 |
666 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1188220080 CA364305227 |
667 | Y>H | No |
ClinGen gnomAD |
|
|
CA364305231 rs1582833704 |
667 | Y>S | No |
ClinGen Ensembl |
|
|
CA364305252 rs1388264881 |
671 | K>E | No |
ClinGen TOPMed |
|
|
rs1388264881 CA364305251 |
671 | K>Q | No |
ClinGen TOPMed |
|
|
CA364305263 rs1370042103 |
672 | L>P | No |
ClinGen TOPMed |
|
|
CA3830293 rs774372585 |
673 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1431538915 CA364305275 |
674 | K>R | No |
ClinGen gnomAD |
|
|
rs1582833850 CA364305297 |
677 | H>P | No |
ClinGen Ensembl |
|
|
CA364305306 rs1435061133 |
678 | S>W | No |
ClinGen gnomAD |
|
|
rs763204625 CA138364929 |
701 | M>V | No |
ClinGen Ensembl |
|
|
CA138364930 rs367749788 COSM3697881 |
702 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA3830306 rs770047637 |
703 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA138365091 rs868133180 |
708 | P>S | No |
ClinGen Ensembl |
|
|
CA3830338 rs759303587 |
709 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs752303826 CA3830340 |
711 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 713 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364305745 rs1247049512 |
713 | T>P | No |
ClinGen TOPMed |
|
|
CA364305766 rs1252861263 |
714 | F>C | No |
ClinGen gnomAD |
|
|
CA364305791 rs1162986008 |
716 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs919707890 CA138365112 |
720 | T>I | No |
ClinGen TOPMed |
|
|
rs1582836101 CA364305828 |
720 | T>P | No |
ClinGen Ensembl |
|
|
CA3830343 rs750929547 |
721 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA364305854 rs1457933551 |
722 | V>A | No |
ClinGen TOPMed |
|
|
rs756552254 CA3830344 |
722 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364305849 rs756552254 |
722 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3830345 rs780525320 |
723 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3830346 rs375644555 |
725 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3830348 rs778979991 |
728 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561828349 CA364305937 |
733 | F>C | No |
ClinGen Ensembl |
|
|
rs1187677345 CA364305944 |
734 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 735 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1270856356 CA364305958 |
736 | L>F | No |
ClinGen gnomAD |
|
|
CA364306504 rs1286379336 |
744 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA364306514 rs752983563 |
744 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA364306507 rs1286379336 |
744 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1411089037 CA364306497 |
744 | E>Q | No |
ClinGen TOPMed |
|
|
CA3830368 rs758681511 |
746 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3830370 rs747057752 |
747 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1315707532 CA364306644 |
751 | V>A | No |
ClinGen gnomAD |
|
|
rs781017342 CA3830372 |
751 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3830373 rs745780774 |
752 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 754 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 754 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3830374 rs769477342 |
755 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322524428 CA364306726 |
755 | S>N | No |
ClinGen gnomAD |
|
|
CA3830375 rs775203454 |
755 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs748994220 CA3830376 |
756 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1221158138 CA364306799 |
758 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA364306805 rs1221158138 |
758 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3830378 rs773890282 |
758 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1282371858 CA364306809 |
759 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs761291206 CA3830379 |
759 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282371858 CA364306814 |
759 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs201388559 CA138365256 |
760 | P>S | No |
ClinGen 1000Genomes |
|
|
CA3830383 rs765580680 |
761 | T>A | No |
ClinGen ExAC |
|
|
rs1467523190 CA364306864 |
761 | T>I | No |
ClinGen gnomAD |
|
|
CA3830384 rs753108397 |
764 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582837926 CA364306951 |
765 | V>L | No |
ClinGen Ensembl |
|
|
rs757316670 CA3830388 |
766 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751786492 CA3830387 |
766 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3830389 rs781263634 |
767 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745802520 CA3830390 |
769 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747813029 CA364307230 |
771 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364307207 rs1203529754 |
771 | Y>D | No |
ClinGen gnomAD |
|
|
rs771754410 CA3830415 |
772 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1288452172 CA364307397 |
778 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 780 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138365412 rs989417288 |
782 | D>N | No |
ClinGen TOPMed |
|
|
CA3830419 rs770518745 COSM146024 |
783 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1394845371 CA364307519 |
784 | D>G | No |
ClinGen gnomAD |
|
|
CA364307505 rs1582839522 |
784 | D>N | No |
ClinGen Ensembl |
|
|
rs948115415 CA138365420 |
787 | G>E | No |
ClinGen TOPMed |
|
|
rs763491659 CA3830421 |
787 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769152686 CA3830422 |
791 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs774760478 CA3830423 |
793 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA364307703 rs1310144188 |
794 | D>G | No |
ClinGen gnomAD |
|
|
CA364307695 rs1450423373 |
794 | D>N | No |
ClinGen TOPMed |
|
|
rs767744867 CA3830425 |
795 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1342287327 CA364307758 |
796 | P>R | No |
ClinGen gnomAD |
|
|
rs760764241 CA3830427 |
796 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364307815 rs1297465607 |
797 | P>L | No |
ClinGen gnomAD |
|
|
CA364307838 rs1221062363 |
798 | S>L | No |
ClinGen TOPMed |
|
|
CA3830428 rs766406475 |
798 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3830430 rs754897736 |
800 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA364307897 rs1276637946 |
802 | Q>R | No |
ClinGen TOPMed |
|
|
rs778746845 CA3830431 |
804 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364307961 rs1475267030 |
805 | E>K | No |
ClinGen TOPMed |
|
|
CA138365448 rs868771730 |
809 | P>S | No |
ClinGen Ensembl |
|
|
CA364308121 rs1293172480 |
810 | P>S | No |
ClinGen TOPMed |
|
|
rs777507781 CA3830434 |
811 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3830436 rs140864924 |
812 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150146006 CA3830438 |
814 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3830442 rs539919338 |
816 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748521642 CA3830441 |
816 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1366513129 CA364308279 |
818 | F>L | No |
ClinGen gnomAD |
|
|
rs1231155706 CA364308306 |
820 | S>P | No |
ClinGen gnomAD |
|
|
CA3830443 rs773513674 |
821 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs760819271 CA364308342 |
821 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766505020 CA3830445 |
822 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA364308450 rs1198100795 |
827 | E>K | No |
ClinGen TOPMed |
|
|
rs776687560 CA3830446 |
829 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364308561 rs1582840372 |
831 | H>P | No |
ClinGen Ensembl |
|
|
CA364308586 rs1207521082 |
832 | Q>* | No |
ClinGen gnomAD |
|
|
rs1248640001 CA364308607 |
832 | Q>H | No |
ClinGen gnomAD |
No associated diseases with Q5T3F8
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium activated cation channel activity | Enables the calcium concentration-regulatable energy-independent passage of cations across a lipid bilayer down a concentration gradient. |
| mechanosensitive ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress. |
| osmolarity-sensing cation channel activity | Enables the transmembrane transfer of a cation by a channel that opens when a change in the osmolarity occurs in the extracellular space of the cell in which the cation channel resides. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O94886 | TMEM63A | CSC1-like protein 1 | Homo sapiens (Human) | PR |
| Q9P1W3 | TMEM63C | Calcium permeable stress-gated cation channel 1 | Homo sapiens (Human) | PR |
| Q91YT8 | Tmem63a | CSC1-like protein 1 | Mus musculus (Mouse) | PR |
| Q94A87 | At1g10090 | CSC1-like protein At1g10090 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| B5TYT3 | At1g11960 | CSC1-like protein At1g11960 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4IBD7 | RXW8 | CSC1-like protein RXW8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4HYR3 | At1g62320 | CSC1-like protein At1g62320 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9XEA1 | OSCA1 | Protein OSCA1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q5XEZ5 | CSC1 | Calcium permeable stress-gated cation channel 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPFLLATLG | TTALNNSNPK | DYCYSARIRS | TVLQGLPFGG | VPTVLALDFM | CFLALLFLFS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ILRKVAWDYG | RLALVTDADR | LRRQERDRVE | QEYVASAMHG | DSHDRYERLT | SVSSSVDFDQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RDNGFCSWLT | AIFRIKDDEI | RDKCGGDAVH | YLSFQRHIIG | LLVVVGVLSV | GIVLPVNFSG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DLLENNAYSF | GRTTIANLKS | GNNLLWLHTS | FAFLYLLLTV | YSMRRHTSKM | RYKEDDLVKR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TLFINGISKY | AESEKIKKHF | EEAYPNCTVL | EARPCYNVAR | LMFLDAERKK | AERGKLYFTN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LQSKENVPTM | INPKPCGHLC | CCVVRGCEQV | EAIEYYTKLE | QKLKEDYKRE | KEKVNEKPLG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MAFVTFHNET | ITAIILKDFN | VCKCQGCTCR | GEPRPSSCSE | SLHISNWTVS | YAPDPQNIYW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EHLSIRGFIW | WLRCLVINVV | LFILLFFLTT | PAIIITTMDK | FNVTKPVEYL | NNPIITQFFP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLLLWCFSAL | LPTIVYYSAF | FEAHWTRSGE | NRTTMHKCYT | FLIFMVLLLP | SLGLSSLDLF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FRWLFDKKFL | AEAAIRFECV | FLPDNGAFFV | NYVIASAFIG | NAMDLLRIPG | LLMYMIRLCL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ARSAAERRNV | KRHQAYEFQF | GAAYAWMMCV | FTVVMTYSIT | CPIIVPFGLM | YMLLKHLVDR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YNLYYAYLPA | KLDKKIHSGA | VNQVVAAPIL | CLFWLLFFST | MRTGFLAPTS | MFTFVVLVIT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IVICLCHVCF | GHFKYLSAHN | YKIEHTETDT | VDPRSNGRPP | TAAAVPKSAK | YIAQVLQDSE |
| 790 | 800 | 810 | 820 | 830 | |
| VDGDGDGAPG | SSGDEPPSSS | SQDEELLMPP | DALTDTDFQS | CEDSLIENEI | HQ |