P48995
PR
Gene name |
TRPC1 (TRP1) |
Protein name |
Short transient receptor potential channel 1 |
Names |
TrpC1, Transient receptor protein 1, TRP-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7220 |
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 P48995
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P48995-F1 | Predicted | AlphaFoldDB |
471 variants for P48995
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM1179202 RCV000149146 CA174444 rs193920786 |
324 | Q>* | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs887747091 CA84755538 |
2 | M>I | No |
ClinGen TOPMed |
|
|
CA2651460 rs768933766 |
2 | M>R | No |
ClinGen ExAC |
|
|
CA354829439 rs1334283044 |
3 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1279722767 CA354829443 |
4 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs748211039 CA354829462 |
7 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651462 rs748211039 |
7 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748211039 CA2651463 |
7 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651465 rs370471720 |
9 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370471720 CA2651464 |
9 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763751690 CA2651469 |
10 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2651468 rs759921709 |
10 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2651471 rs756973365 |
11 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201081463 CA84755577 |
12 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2651473 rs201081463 |
12 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2651476 rs78975236 |
14 | A>T | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA2651480 rs751360521 |
15 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751360521 CA2651479 |
15 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651481 rs781091573 |
16 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2651483 rs770125446 |
17 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78715340 CA354829510 |
17 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2651482 rs78715340 |
17 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1362646123 CA354829529 |
20 | P>L | No |
ClinGen TOPMed |
|
|
CA354829527 rs1560087234 |
20 | P>S | No |
ClinGen Ensembl |
|
|
CA2651487 rs771383615 |
21 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2651489 rs760081567 |
22 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1262264610 CA354829545 |
23 | P>L | No |
ClinGen gnomAD |
|
|
rs772291831 CA2651490 |
23 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2651491 rs775987521 |
24 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs764956121 CA2651493 |
25 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2651494 rs141933164 |
27 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354829571 rs1463962763 |
28 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651496 rs185773990 |
29 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1408611328 CA354829575 |
29 | N>Y | No |
ClinGen gnomAD |
|
|
rs1011459553 CA84755685 CA354829589 |
31 | V>L | No |
ClinGen TOPMed |
|
|
rs1467904778 CA354829605 |
33 | A>G | No |
ClinGen gnomAD |
|
|
rs780847830 CA2651499 |
33 | A>P | No |
ClinGen ExAC |
|
|
CA2651501 rs756237031 |
34 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2651502 rs777998269 |
36 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2651503 rs749313892 |
38 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA354829634 rs370418779 |
38 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370418779 CA2651504 |
38 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA84755740 rs942198628 |
39 | E>K | No |
ClinGen gnomAD |
|
|
CA354829635 rs942198628 |
39 | E>Q | No |
ClinGen gnomAD |
|
|
rs571028288 CA354829649 |
40 | V>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs571028288 CA84755742 |
40 | V>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 40 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84755743 rs898077622 |
41 | K>N | No |
ClinGen Ensembl |
|
|
rs1245006148 CA354829743 |
45 | T>M | No |
ClinGen TOPMed |
|
|
CA2651506 rs746355812 |
46 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1380235201 CA354829832 |
50 | L>P | No |
ClinGen TOPMed |
|
|
CA2651507 rs772692152 |
51 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769291326 CA2651510 |
56 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84762643 rs201991459 |
58 | G>D | No |
ClinGen 1000Genomes |
|
|
CA2651537 rs148156247 |
61 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2651536 rs148156247 |
61 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354832162 rs1391049878 |
63 | V>I | No |
ClinGen gnomAD |
|
|
rs775472094 CA2651538 |
64 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1219807911 CA354832198 |
65 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354832186 rs1318843912 |
65 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763868982 CA2651540 |
70 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354832268 rs1357998520 |
71 | S>G | No |
ClinGen gnomAD |
|
|
CA84762665 rs911529345 |
73 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs964445522 CA84762666 |
75 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1175152675 CA354832421 COSM205556 |
80 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs765450309 CA2651543 |
81 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1560092689 CA354832467 |
82 | V>M | No |
ClinGen Ensembl |
|
|
rs750429181 CA2651544 |
85 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2651545 rs758528510 |
86 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354832647 rs1430579833 |
88 | V>I | No |
ClinGen TOPMed |
|
|
CA354832671 rs1426475280 |
89 | T>A | No |
ClinGen gnomAD |
|
|
rs756070223 CA354832682 |
90 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651548 rs755610745 |
90 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs747520219 CA2651547 |
90 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs756070223 CA2651546 |
90 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651549 rs781682227 |
91 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1577945687 CA354832870 |
96 | N>S | No |
ClinGen Ensembl |
|
|
CA2651552 rs774070757 |
98 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2651553 rs373732946 |
99 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2651554 rs150284019 |
101 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253437660 CA354833004 |
102 | L>F | No |
ClinGen gnomAD |
|
|
rs774928231 CA2651555 |
103 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA354833077 rs1474725302 |
105 | D>E | No |
ClinGen gnomAD |
|
|
rs764030575 CA2651557 COSM728957 |
107 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 108 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651567 rs555963836 |
110 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 115 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771108749 CA354835434 |
118 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs771108749 CA84766539 |
118 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354835455 rs1424100895 |
119 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 121 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354835504 rs1243466332 |
121 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1173952735 CA354835514 |
122 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1427523343 CA354835524 |
123 | V>E | No |
ClinGen gnomAD |
|
|
rs1240012847 CA354835529 |
124 | G>E | No |
ClinGen TOPMed |
|
|
CA354835526 rs1264529252 |
124 | G>R | No |
ClinGen gnomAD |
|
|
CA84766563 rs751112702 |
128 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1335013669 CA354835561 |
129 | L>P | No |
ClinGen gnomAD |
|
|
CA354835573 rs1429249556 |
131 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1024894641 CA84766567 |
132 | H>R | No |
ClinGen TOPMed |
|
|
CA354835585 rs1300529209 |
133 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs971022230 COSM3944953 CA84766576 |
133 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1394139257 CA354835592 |
134 | P>R | No |
ClinGen TOPMed |
|
|
CA84766597 rs908343352 |
136 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs939941208 CA84766604 |
136 | R>Q | No |
ClinGen Ensembl |
|
|
CA354835638 rs1211212327 |
142 | I>V | No |
ClinGen gnomAD |
|
|
CA2651579 rs746525030 |
144 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776572650 CA354836347 |
145 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2651581 rs776572650 |
145 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs761788159 CA2651582 |
148 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539204792 CA2651583 COSM1230492 |
148 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 152 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263744048 CA354836476 |
153 | E>D | No |
ClinGen TOPMed |
|
|
CA84768628 rs917289891 |
153 | E>G | No |
ClinGen TOPMed |
|
|
rs772948472 CA2651584 |
156 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA354836531 rs1458627183 |
156 | T>S | No |
ClinGen gnomAD |
|
|
CA84768643 rs898789221 |
158 | M>L | No |
ClinGen Ensembl |
|
|
CA354836559 rs1209194279 |
158 | M>T | No |
ClinGen TOPMed |
|
|
rs763225534 CA2651585 |
159 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs766526012 CA354836590 |
160 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs766526012 CA2651586 |
160 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354836613 rs1358722550 |
162 | P>S | No |
ClinGen gnomAD |
|
|
rs751626673 CA2651587 |
167 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354836716 rs1265941504 |
168 | H>Q | No |
ClinGen TOPMed |
|
|
rs759725115 CA2651588 |
168 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs767750507 CA2651589 |
169 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767750507 CA354836724 |
169 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753220768 CA2651590 |
169 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA84768655 rs187612054 |
170 | N>K | No |
ClinGen 1000Genomes |
|
|
CA354836745 rs1456776072 |
170 | N>S | No |
ClinGen gnomAD |
|
|
rs778183660 CA2651592 |
172 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354836780 rs778183660 |
172 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241955080 CA354836866 |
177 | M>K | No |
ClinGen TOPMed |
|
|
CA2651593 rs754164716 |
177 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2651596 rs569333117 |
181 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354836960 rs1328576502 |
182 | D>G | No |
ClinGen gnomAD |
|
|
rs111941638 CA354836950 |
182 | D>N | No |
ClinGen gnomAD |
|
|
rs111941638 CA84768686 |
182 | D>Y | No |
ClinGen gnomAD |
|
|
CA2651597 rs768132715 |
183 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 194 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780722097 CA2651598 |
196 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs146321589 CA2651600 |
203 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 205 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84768710 rs900432169 |
205 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1268652 CA354837197 rs1391699255 |
208 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs372429531 CA2651602 |
208 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2651620 rs777605701 |
213 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs920168607 CA84767083 |
216 | I>K | No |
ClinGen TOPMed |
|
|
rs139635169 CA2651622 |
216 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421957348 CA354824387 |
217 | Y>F | No |
ClinGen gnomAD |
|
|
CA354824375 rs1208786043 |
217 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2651623 rs770613778 |
218 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs977445864 COSM1039443 CA84767088 |
218 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1253002210 CA354824421 |
219 | C>F | No |
ClinGen TOPMed |
|
|
CA354824411 rs1438575227 |
219 | C>S | No |
ClinGen TOPMed |
|
|
CA354824426 rs1194418593 |
219 | C>W | No |
ClinGen TOPMed |
|
|
rs866022703 CA84767093 |
221 | A>G | No |
ClinGen Ensembl |
|
|
CA84767094 rs866022703 |
221 | A>V | No |
ClinGen Ensembl |
|
|
CA2651626 rs572070072 |
222 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264231548 CA354824540 |
224 | A>T | No |
ClinGen TOPMed |
|
|
CA354824561 rs1225925790 |
225 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs938811020 CA84767100 |
226 | I>T | No |
ClinGen Ensembl |
|
|
rs1325010736 CA354824640 |
227 | M>I | No |
ClinGen TOPMed |
|
|
rs1577989098 CA354824624 |
227 | M>T | No |
ClinGen Ensembl |
|
|
rs1467893082 CA354824709 |
230 | E>D | No |
ClinGen gnomAD |
|
|
rs1272551416 CA354824826 |
233 | P>L | No |
ClinGen TOPMed |
|
|
rs796481421 CA84767105 |
233 | P>S | No |
ClinGen Ensembl |
|
|
rs114905575 CA84767108 |
234 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1560110267 CA354824913 |
237 | A>P | No |
ClinGen Ensembl |
|
|
CA2651627 rs746071341 |
242 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2651629 rs775642775 |
245 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1560110293 CA354825145 |
248 | S>R | No |
ClinGen Ensembl |
|
|
rs1577989187 CA354825225 |
252 | V>G | No |
ClinGen Ensembl |
|
|
rs1282382347 CA354825213 |
252 | V>M | No |
ClinGen gnomAD |
|
|
rs1330542051 CA354825257 |
254 | F>Y | No |
ClinGen TOPMed |
|
|
CA354825277 rs1323175892 |
255 | R>M | No |
ClinGen gnomAD |
|
|
rs1217907460 CA354826521 |
259 | E>G | No |
ClinGen gnomAD |
|
|
CA354826562 rs1291524547 |
262 | A>S | No |
ClinGen gnomAD |
|
|
rs373999442 CA2651655 |
262 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766341311 CA2651656 |
263 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354826577 rs1192600074 |
263 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA354826613 rs1241695443 |
265 | C>Y | No |
ClinGen TOPMed |
|
|
rs752256549 CA2651658 |
266 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560111779 CA354826751 |
274 | A>E | No |
ClinGen Ensembl |
|
|
COSM1039445 CA354826790 rs1347931843 |
277 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2651660 rs763511368 COSM1495449 |
277 | R>W | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 279 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651662 rs757206407 |
280 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM4136964 rs779018180 CA2651663 COSM4136965 |
280 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354826942 rs1306924107 |
288 | H>N | No |
ClinGen TOPMed |
|
|
rs1391039013 CA354826969 |
289 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1391039013 CA354826967 |
289 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA84768826 rs757739566 |
290 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1241536845 CA354826986 |
291 | S>C | No |
ClinGen gnomAD |
|
|
CA2651666 rs112064817 |
292 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354827029 rs576129645 |
293 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1560111853 CA354827020 |
293 | E>K | No |
ClinGen Ensembl |
|
|
CA354827041 rs1343320158 |
294 | P>L | No |
ClinGen TOPMed |
|
|
CA354827044 rs1577992653 |
295 | L>F | No |
ClinGen Ensembl |
|
|
CA2651668 rs768988336 |
296 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1480108156 CA354827094 |
298 | R>W | No |
ClinGen gnomAD |
|
|
rs781064764 CA2651669 |
299 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA354827139 rs1158314778 |
301 | L>S | No |
ClinGen TOPMed |
|
|
rs748271979 COSM581766 CA2651670 |
309 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2651671 rs770234886 |
311 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1302122931 CA354827308 |
312 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA354827310 rs1182405628 |
312 | L>R | No |
ClinGen gnomAD |
|
|
CA2651672 rs773736767 |
314 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763487317 CA2651673 |
315 | K>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651674 rs771259073 |
318 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1474994947 CA354827430 |
320 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 323 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779189422 CA84770473 |
325 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 325 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354827679 rs1220477080 |
328 | Q>R | No |
ClinGen TOPMed |
|
|
rs781497762 CA2651688 |
331 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2651689 rs748182947 |
333 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA84770481 rs748182947 |
333 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA354827754 rs1318242927 |
335 | W>G | No |
ClinGen gnomAD |
|
|
rs756151939 CA2651691 |
338 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651693 COSM1419653 rs569515062 |
339 | M>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA2651692 rs767321616 |
339 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651694 rs148727851 |
340 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM445730 rs1560113574 CA354827832 |
341 | G>D | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA354827850 rs1195650315 |
343 | R>* | No |
ClinGen gnomAD |
|
|
rs768156525 CA2651697 |
343 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651698 rs776318165 |
344 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1172161848 CA354827859 |
344 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354827861 rs1172161848 |
344 | R>P | No |
ClinGen gnomAD |
|
|
rs1560113614 CA354827920 |
350 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 353 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354827983 rs1336194281 |
355 | L>W | No |
ClinGen TOPMed |
|
|
rs1412868530 CA354828002 |
357 | V>I | No |
ClinGen TOPMed |
|
|
rs1176850172 CA354828016 |
358 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354828015 rs1428732164 |
358 | G>S | No |
ClinGen TOPMed |
|
|
rs1160147263 CA354828023 |
359 | I>V | No |
ClinGen TOPMed |
|
|
rs1418399682 CA354828106 |
366 | L>H | No |
ClinGen gnomAD |
|
|
CA2651701 rs377020498 |
370 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 373 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354828209 rs1435337701 |
375 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354828263 rs1369249920 |
378 | R>S | No |
ClinGen gnomAD |
|
|
CA354828272 rs1560113687 |
379 | I>N | No |
ClinGen Ensembl |
|
|
rs751261909 CA2651705 |
384 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs894349359 CA84770541 |
389 | I>V | No |
ClinGen TOPMed |
|
|
CA2651706 rs754830022 |
390 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651707 rs767252742 |
394 | Y>C | No |
ClinGen ExAC |
|
|
rs1351426118 CA354828537 |
396 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 397 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752890954 CA2651708 |
402 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2651710 rs777766823 |
406 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354828674 rs777766823 |
406 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354828684 rs1239758559 |
407 | V>I | No |
ClinGen TOPMed |
|
|
CA2651712 rs757658849 |
409 | N>S | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 411 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651713 rs779508201 |
414 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs145257212 CA2651714 |
416 | M>V | No |
ClinGen ESP ExAC |
|
|
CA354828847 rs1208960689 |
420 | L>F | No |
ClinGen TOPMed |
|
|
rs951264728 CA84770595 |
421 | E>G | No |
ClinGen gnomAD |
|
|
CA354828853 rs1361611658 |
421 | E>Q | No |
ClinGen gnomAD |
|
|
rs1351318056 CA354828869 |
423 | I>T | No |
ClinGen gnomAD |
|
|
rs370548462 CA2651717 |
425 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776055922 CA2651716 |
425 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354828910 rs1560113862 |
426 | L>F | No |
ClinGen Ensembl |
|
|
rs1467428947 CA354828923 |
427 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2651718 rs373014223 |
428 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2651719 rs772789949 COSM166853 |
432 | I>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354829363 rs1257715003 |
434 | M>L | No |
ClinGen gnomAD |
|
|
rs1456593719 CA354829391 |
437 | S>L | No |
ClinGen gnomAD |
|
|
rs1431958922 CA354829734 |
449 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 453 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750929781 CA2651734 |
454 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2651735 rs758894493 |
455 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs780499678 CA2651736 |
455 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA354829812 rs1341571617 |
456 | N>D | No |
ClinGen TOPMed |
|
|
CA354829840 rs1315428954 |
458 | L>F | No |
ClinGen TOPMed |
|
|
CA2651739 rs777598282 |
465 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354829920 rs1466855986 |
465 | L>P | No |
ClinGen gnomAD |
|
|
rs114172295 CA2651740 |
468 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1373101288 CA354829986 |
471 | A>V | No |
ClinGen TOPMed |
|
|
CA2651741 rs770448792 |
475 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354830018 rs1340964416 |
476 | A>G | No |
ClinGen gnomAD |
|
|
rs1336050980 CA354830016 |
476 | A>S | No |
ClinGen gnomAD |
|
|
rs1017137556 CA84773580 |
477 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2651752 rs765355502 |
481 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651753 rs750475343 |
486 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758882327 CA2651754 |
488 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296121617 CA354830132 |
490 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201054112 CA84774378 |
492 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402113244 CA354830160 |
493 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780728824 CA2651755 |
495 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2651757 rs755361797 |
499 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1170158586 CA354830231 |
500 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 504 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560117193 CA354830293 |
505 | A>T | No |
ClinGen Ensembl |
|
|
rs1363312167 CA354830302 |
505 | A>V | No |
ClinGen gnomAD |
|
|
rs778416550 CA2651761 |
506 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 508 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 511 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354830369 rs1284350941 |
511 | L>R | No |
ClinGen gnomAD |
|
|
COSM1039454 CA84774392 rs929868284 |
512 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs745396101 CA2651762 |
512 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354830409 rs1560117223 |
515 | F>C | No |
ClinGen Ensembl |
|
| rs1214691323 | 515 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578004923 CA354830427 |
516 | M>I | No |
ClinGen Ensembl |
|
|
CA354830464 rs1200456696 |
519 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 521 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760657762 CA2651765 |
522 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776357224 COSM76831 CA2651767 |
525 | P>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA354830538 rs1292716037 |
526 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 527 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354831418 rs1444131593 |
529 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 539 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747917025 CA2651790 |
543 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354831567 rs1379851465 |
549 | F>S | No |
ClinGen gnomAD |
|
|
rs774636804 CA2651795 |
557 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1328830111 CA354831640 |
560 | D>E | No |
ClinGen TOPMed |
|
|
rs1226825161 CA354831636 |
560 | D>N | No |
ClinGen TOPMed |
|
|
rs539219403 CA354831659 |
563 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539219403 CA2651798 |
563 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2651799 rs557560974 |
564 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA84779158 rs557560974 |
564 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2651800 rs557560974 |
564 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2651802 rs758115404 |
566 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354831674 rs1560121351 |
566 | K>T | No |
ClinGen Ensembl |
|
|
CA354831690 rs1394905727 |
568 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 571 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs116638646 CA84779188 |
572 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1385080634 CA354831728 |
573 | G>A | No |
ClinGen TOPMed |
|
|
rs771728634 CA2651804 |
579 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84779194 rs142075798 |
581 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746537144 CA2651805 |
581 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754860793 CA2651806 |
582 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA84779199 rs867790147 |
585 | H>Y | No |
ClinGen Ensembl |
|
|
rs748155519 CA2651808 |
586 | S>L | No |
ClinGen ExAC |
|
|
CA2651825 rs200537637 |
588 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs918449427 CA84780111 |
596 | W>C | No |
ClinGen Ensembl |
|
|
CA354832885 rs1437052399 |
602 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 602 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354832905 rs1404406709 |
603 | H>P | No |
ClinGen gnomAD |
|
|
CA84780126 rs746137889 |
604 | V>M | No |
ClinGen Ensembl |
|
|
rs1340235356 CA354832955 |
605 | A>V | No |
ClinGen gnomAD |
|
|
rs1397780894 CA354832964 |
606 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1050873875 CA354833000 |
608 | V>I | No |
ClinGen gnomAD |
|
|
CA84780148 rs1050873875 |
608 | V>L | No |
ClinGen gnomAD |
|
|
CA354833055 rs1218194019 |
611 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 611 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298556660 CA354833101 |
613 | Y>C | No |
ClinGen gnomAD |
|
|
rs780801549 CA2651830 |
615 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA354833145 rs1436741726 |
615 | E>G | No |
ClinGen TOPMed |
|
|
CA84780178 rs1022327546 |
617 | L>M | No |
ClinGen TOPMed |
|
|
CA354833185 rs1487163856 |
617 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2651832 rs756140589 |
618 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs116516593 CA2651834 |
621 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1282476550 CA354833259 |
623 | A>T | No |
ClinGen TOPMed |
|
|
rs375825042 CA2651835 |
623 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA84780205 rs904504211 |
627 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 627 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354833329 rs1174766929 |
628 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354833338 rs1441517170 |
629 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 631 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651838 rs772034228 |
632 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354833416 rs770686163 |
635 | I>N | No |
ClinGen gnomAD |
|
|
rs770686163 CA84780209 |
635 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 635 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA917025021 rs1578016477 |
644 | M>NL* | No |
ClinGen Ensembl |
|
|
rs1234969777 CA354833530 |
646 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 648 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308500790 CA354833549 |
648 | S>T | No |
ClinGen gnomAD |
|
|
rs1351391493 CA354833557 |
649 | F>C | No |
ClinGen gnomAD |
|
|
rs200746084 CA84780227 |
653 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 656 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1340321478 CA354833672 |
663 | A>P | No |
ClinGen Ensembl |
|
|
CA354833679 rs1248342604 |
664 | R>* | No |
ClinGen TOPMed |
|
| TCGA novel | 664 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220162329 CA354833684 |
665 | A>P | No |
ClinGen TOPMed |
|
|
CA354833691 rs1578016890 |
666 | K>E | No |
ClinGen Ensembl |
|
|
CA354833698 rs1490189490 |
667 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 670 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354833727 rs1233852452 |
671 | Y>N | No |
ClinGen gnomAD |
|
|
CA354833743 rs1207525380 |
673 | D>N | No |
ClinGen TOPMed |
|
|
rs901640208 CA84780414 |
674 | D>G | No |
ClinGen TOPMed |
|
|
CA354833777 rs143387100 |
677 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2651863 rs143387100 |
677 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354833800 rs1560122582 |
681 | P>S | No |
ClinGen Ensembl |
|
|
rs1404943574 CA354833812 |
683 | N>H | No |
ClinGen TOPMed |
|
|
rs906040222 CA84780418 |
683 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs181862056 CA84780429 |
684 | I>T | No |
ClinGen 1000Genomes |
|
|
rs1169354882 CA354833820 |
684 | I>V | No |
ClinGen gnomAD |
|
|
rs767209106 CA84780454 |
685 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651865 rs767209106 |
685 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 686 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 688 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354833859 rs1206864898 |
690 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 691 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369893981 CA84780478 |
693 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2651869 rs753816360 |
694 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA354833888 rs1294900369 |
694 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 694 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651870 rs757334759 |
696 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433484318 CA354833920 |
699 | S>R | No |
ClinGen TOPMed |
|
|
CA354833945 rs1337490696 |
702 | I>L | No |
ClinGen gnomAD |
|
|
rs752050440 CA2651871 |
705 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651873 rs758501186 |
711 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572962710 CA2651874 |
713 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375230438 CA84780516 |
713 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA84781280 rs1132030 |
721 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 722 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2651888 rs761785553 |
724 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2651889 rs765288488 |
725 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs750147038 CA2651890 |
726 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651891 rs758182603 |
727 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 728 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751791267 CA2651893 |
729 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755258798 CA2651894 |
730 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA354834199 rs1383163358 |
730 | N>S | No |
ClinGen gnomAD |
|
|
CA354834216 rs1303680611 |
731 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 734 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384077905 CA354834292 |
736 | C>G | No |
ClinGen gnomAD |
|
| TCGA novel | 739 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84781353 rs538677775 |
741 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs538677775 CA2651895 |
741 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1427590841 CA354834362 |
741 | R>H | No |
ClinGen gnomAD |
|
|
rs1381583185 CA354834380 |
742 | Y>* | No |
ClinGen gnomAD |
|
|
rs1329568915 CA354834368 |
742 | Y>H | No |
ClinGen TOPMed |
|
|
rs1349211323 CA354834399 |
744 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 745 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354834416 rs1446436800 |
746 | M>V | No |
ClinGen TOPMed |
|
|
rs756560480 CA2651897 |
751 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84781362 rs554429775 |
752 | S>R | No |
ClinGen 1000Genomes |
|
|
CA2651898 COSM138395 rs778373430 |
755 | Q>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA84781364 rs199844773 |
757 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 758 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774648292 CA2651901 |
759 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2651903 rs200832557 CA2651904 |
762 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171429409 CA354834590 |
763 | E>D | No |
ClinGen TOPMed |
|
|
CA354834591 rs1470222742 |
764 | L>M | No |
ClinGen TOPMed |
|
|
rs1156677123 CA354834598 |
765 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA84781390 COSM1039460 rs769936749 |
765 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA354834601 rs761440539 |
766 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2651905 rs761440539 |
766 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769471377 CA2651906 |
767 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2651907 rs773180018 |
772 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA84781393 rs982977298 |
772 | R>L | No |
ClinGen gnomAD |
|
|
COSM1566211 rs982977298 CA354834643 |
772 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA354834646 rs1329873997 |
773 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2651908 rs762854141 |
775 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354834667 rs1328000340 |
776 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354834688 rs1205723162 |
778 | L>F | No |
ClinGen TOPMed |
|
|
CA2651909 rs766191559 |
780 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2651911 rs759693044 |
782 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs572433240 CA2651910 |
782 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2651912 rs767744024 |
783 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2651913 rs371348586 |
787 | A>D | No |
ClinGen ESP TOPMed |
|
|
rs1264546258 CA354834738 |
787 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs202144242 CA2651916 CA2651917 |
788 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA84781449 rs138274692 |
788 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2651915 rs138274692 |
788 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs564305474 CA2651918 |
790 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354834782 rs1457277131 |
791 | P>L | No |
ClinGen gnomAD |
|
|
rs757713783 CA2651919 |
792 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779282312 CA2651920 COSM1039462 |
792 | R>I | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
No associated diseases with P48995
4 regional properties for P48995
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Ankyrin repeat | 69 - 98 | IPR002110-1 |
| repeat | Ankyrin repeat | 143 - 175 | IPR002110-2 |
| domain | Ion transport domain | 403 - 672 | IPR005821 |
| domain | Transient receptor ion channel domain | 178 - 240 | IPR013555 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cation channel complex | An ion channel complex through which cations pass. |
| 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. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase binding | Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP. |
| 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. |
| cation channel activity | Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient. |
| inositol 1,4,5 trisphosphate binding | Binding to inositol 1,4,5 trisphosphate. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
| store-operated calcium channel activity | A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| 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. |
| 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. |
| melanin biosynthetic process | The chemical reactions and pathways resulting in the formation of melanins, pigments largely of animal origin. High molecular weight polymers of indole quinone, they are irregular polymeric structures and are divided into three groups: allomelanins in the plant kingdom and eumelanins and phaeomelanins in the animal kingdom. |
| positive regulation of release of sequestered calcium ion into cytosol | Any process that activates or increases the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria. |
| regulation of cardiac conduction | Any process that modulates the frequency, rate or extent of cardiac conduction. |
| 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. |
| response to calcium ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P79100 | TRPC4 | Short transient receptor potential channel 4 | Bos taurus (Bovine) | PR |
| O18784 | TRPC1 | Short transient receptor potential channel 1 | 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 |
| Q9UL62 | TRPC5 | Short transient receptor potential channel 5 | Homo sapiens (Human) | PR |
| Q9UBN4 | TRPC4 | Short transient receptor potential channel 4 | 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 |
| Q9QUQ5 | Trpc4 | Short transient receptor potential channel 4 | 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 |
| O35119 | Trpc4 | Short transient receptor potential channel 4 | 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 |
| Q9QX01 | Trpc1 | Short transient receptor potential channel 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMAALYPSTD | LSGASSSSLP | SSPSSSSPNE | VMALKDVREV | KEENTLNEKL | FLLACDKGDY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YMVKKILEEN | SSGDLNINCV | DVLGRNAVTI | TIENENLDIL | QLLLDYGCQS | ADALLVAIDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVVGAVDILL | NHRPKRSSRP | TIVKLMERIQ | NPEYSTTMDV | APVILAAHRN | NYEILTMLLK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QDVSLPKPHA | VGCECTLCSA | KNKKDSLRHS | RFRLDIYRCL | ASPALIMLTE | EDPILRAFEL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SADLKELSLV | EVEFRNDYEE | LARQCKMFAK | DLLAQARNSR | ELEVILNHTS | SDEPLDKRGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEERMNLSRL | KLAIKYNQKE | FVSQSNCQQF | LNTVWFGQMS | GYRRKPTCKK | IMTVLTVGIF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WPVLSLCYLI | APKSQFGRII | HTPFMKFIIH | GASYFTFLLL | LNLYSLVYNE | DKKNTMGPAL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ERIDYLLILW | IIGMIWSDIK | RLWYEGLEDF | LEESRNQLSF | VMNSLYLATF | ALKVVAHNKF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HDFADRKDWD | AFHPTLVAEG | LFAFANVLSY | LRLFFMYTTS | SILGPLQISM | GQMLQDFGKF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LGMFLLVLFS | FTIGLTQLYD | KGYTSKEQKD | CVGIFCEQQS | NDTFHSFIGT | CFALFWYIFS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LAHVAIFVTR | FSYGEELQSF | VGAVIVGTYN | VVVVIVLTKL | LVAMLHKSFQ | LIANHEDKEW |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KFARAKLWLS | YFDDKCTLPP | PFNIIPSPKT | ICYMISSLSK | WICSHTSKGK | VKRQNSLKEW |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RNLKQKRDEN | YQKVMCCLVH | RYLTSMRQKM | QSTDQATVEN | LNELRQDLSK | FRNEIRDLLG |
| 790 | |||||
| FRTSKYAMFY | PRN |