Q9P1W3
PR
Gene name |
TMEM63C (C14orf171, CSC1) |
Protein name |
Calcium permeable stress-gated cation channel 1 |
Names |
Transmembrane protein 63C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57156 |
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 Q9P1W3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9P1W3-F1 | Predicted | AlphaFoldDB |
600 variants for Q9P1W3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_087513 | 195 | Y>del | SPG87 [UniProt] | Yes | UniProt |
|
rs1445953384 CA390499602 |
2 | S>Y | No |
ClinGen gnomAD |
|
|
rs775742780 CA7284571 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277460151 CA390499616 |
3 | A>V | No |
ClinGen TOPMed |
|
|
CA263803628 rs267604059 |
4 | S>L | No |
ClinGen Ensembl |
|
|
CA7284572 rs762983112 COSM958104 |
5 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA390499657 rs141518471 |
6 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7284574 rs202129782 |
7 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767883333 CA7284576 |
10 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767883333 CA7284577 |
10 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs999406355 CA263803648 |
11 | G>E | No |
ClinGen TOPMed |
|
|
rs754658816 CA7284578 |
11 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 12 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 16 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468399054 CA390499892 |
17 | M>T | No |
ClinGen TOPMed |
|
|
rs1594857269 CA390499880 |
17 | M>V | No |
ClinGen Ensembl |
|
|
CA390499917 rs1431755000 |
18 | T>A | No |
ClinGen TOPMed |
|
|
rs1390405772 CA390499942 |
19 | V>A | No |
ClinGen gnomAD |
|
|
rs1367376929 CA390499967 |
20 | D>V | No |
ClinGen gnomAD |
|
|
CA390500023 rs1457401180 |
22 | C>F | No |
ClinGen gnomAD |
|
|
CA7284581 rs757899942 |
23 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763300906 CA7284582 |
25 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284584 rs770931606 |
26 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284583 rs548280197 |
26 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201228582 CA7284586 |
29 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249351208 CA390500240 |
31 | Q>R | No |
ClinGen gnomAD |
|
|
rs769680433 CA7284587 |
35 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7284588 rs775623809 |
38 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 39 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763233496 CA7284589 |
39 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1362964186 CA390500392 |
40 | T>N | No |
ClinGen gnomAD |
|
|
rs1161204403 CA390500401 |
41 | V>M | Variant assessed as Somatic; 4.799e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7284592 rs762251072 |
45 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA390500537 rs1302524852 |
46 | I>T | No |
ClinGen gnomAD |
|
|
rs374195644 CA7284593 |
47 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391937475 CA390500554 |
47 | A>V | No |
ClinGen TOPMed |
|
| rs749486373 | 51 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs576313695 CA7284609 |
52 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273433813 CA390500796 |
54 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1207068908 CA390500868 |
58 | F>I | No |
ClinGen gnomAD |
|
|
CA263804090 rs772480639 |
60 | R>Q | No |
ClinGen gnomAD |
|
|
CA263804093 rs991161868 |
61 | K>E | No |
ClinGen TOPMed |
|
|
rs772119752 CA7284612 |
63 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA390500996 rs1434965855 |
64 | W>L | No |
ClinGen gnomAD |
|
|
rs1472191091 CA390501045 |
66 | Y>C | No |
ClinGen gnomAD |
|
|
rs375439138 CA7284614 |
66 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766738222 CA7284615 COSM958105 |
68 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766738222 CA7284616 |
68 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390501117 rs1310263542 |
70 | A>V | No |
ClinGen gnomAD |
|
|
CA7284618 rs763764284 |
74 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292288610 CA390501173 |
74 | H>N | No |
ClinGen gnomAD |
|
|
CA7284619 rs751143240 |
74 | H>Q | No |
ClinGen ExAC |
|
|
rs1219271153 CA390501195 |
75 | N>D | No |
ClinGen gnomAD |
|
|
rs1296173573 CA390501203 |
75 | N>S | No |
ClinGen gnomAD |
|
|
rs759987716 CA7284634 |
79 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765498876 CA7284635 |
80 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284637 rs761552709 |
82 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA390501413 rs761552709 |
82 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390501435 rs1462427679 |
83 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390501448 rs1256319372 |
84 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 84 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390501467 rs1385879409 |
85 | E>* | No |
ClinGen gnomAD |
|
|
CA390501486 rs1566622899 |
86 | Q>* | No |
ClinGen Ensembl |
|
|
CA390501496 rs1320856657 |
86 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749902866 CA7284639 |
87 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA263804377 rs866211915 |
88 | E>* | No |
ClinGen TOPMed |
|
|
rs1377802837 CA390501545 |
88 | E>D | No |
ClinGen TOPMed |
|
|
rs866211915 CA390501530 |
88 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1227784041 CA390501603 |
91 | S>Y | No |
ClinGen gnomAD |
|
|
rs1450667191 CA390501633 |
92 | P>L | No |
ClinGen TOPMed |
|
|
CA390501630 rs1266158188 |
92 | P>S | No |
ClinGen gnomAD |
|
|
rs753694690 CA263804392 |
93 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753694690 CA390501655 |
93 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753694690 CA7284642 |
93 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284645 rs748370632 |
94 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7284646 rs763893406 |
96 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284647 rs376740038 |
97 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867624945 CA263804439 |
98 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA263804440 rs534211287 |
99 | M>V | No |
ClinGen 1000Genomes |
|
|
CA390501806 rs1475731071 |
100 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031176015 CA263804469 |
101 | R>C | No |
ClinGen gnomAD |
|
|
CA390501836 rs1031176015 |
101 | R>G | No |
ClinGen gnomAD |
|
|
rs371335926 CA263804477 |
101 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA390501848 rs1473835623 |
102 | R>G | No |
ClinGen gnomAD |
|
|
rs577654792 CA263807540 |
105 | G>R | No |
ClinGen Ensembl |
|
|
CA7284664 rs758654488 |
107 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284665 rs778012764 COSM403682 |
109 | W>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA390503483 rs1392340141 |
114 | I>M | No |
ClinGen gnomAD |
|
|
CA390503470 rs1267250295 |
114 | I>V | No |
ClinGen gnomAD |
|
|
CA263807555 rs995111248 |
115 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA390503499 rs1333857683 |
116 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390505008 rs1235736131 |
118 | D>Y | No |
ClinGen gnomAD |
|
|
CA263811352 rs866923436 |
119 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1206315590 CA390505039 COSM228165 |
120 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1261920302 CA390505073 |
121 | L>Q | No |
ClinGen gnomAD |
|
|
rs1425322093 CA390505130 |
125 | C>* | No |
ClinGen gnomAD |
|
|
CA390505124 rs1199461267 |
125 | C>R | No |
ClinGen gnomAD |
|
|
rs1253901355 CA390505128 |
125 | C>Y | No |
ClinGen gnomAD |
|
|
rs1411111851 CA390505143 |
126 | G>A | No |
ClinGen gnomAD |
|
|
CA390505134 rs1188636818 |
126 | G>R | No |
ClinGen gnomAD |
|
|
rs746683829 CA7284693 |
127 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1471548095 CA390505149 |
127 | D>N | No |
ClinGen gnomAD |
|
|
CA390505157 rs1471548095 |
127 | D>Y | No |
ClinGen gnomAD |
|
|
rs374236267 CA263811374 |
128 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7284696 rs759011366 |
129 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263811380 rs912393934 |
129 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7284698 rs775465673 |
130 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA263811385 rs202241964 |
130 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA390505204 rs1316983300 |
132 | Y>H | No |
ClinGen gnomAD |
|
|
CA390505217 rs1253864929 |
133 | I>F | No |
ClinGen gnomAD |
|
|
rs200672502 CA7284699 |
133 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1211375083 CA390505225 |
134 | V>M | No |
ClinGen gnomAD |
|
|
rs1178871366 CA390505251 |
136 | Q>H | No |
ClinGen gnomAD |
|
|
CA263811405 rs940953594 |
144 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 144 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376163491 CA390505355 |
146 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1376163491 CA390505357 |
146 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390505362 rs1299848703 |
147 | C>R | No |
ClinGen gnomAD |
|
|
rs1436765143 CA390505380 |
148 | I>S | No |
ClinGen gnomAD |
|
|
CA390505383 rs1220304990 |
149 | P>A | No |
ClinGen TOPMed |
|
|
rs1363289042 CA390505427 |
154 | I>N | No |
ClinGen TOPMed |
|
|
rs1363289042 CA390505428 |
154 | I>T | No |
ClinGen TOPMed |
|
|
rs1370267858 CA390505424 |
154 | I>V | No |
ClinGen gnomAD |
|
|
CA390505444 rs1408609681 |
155 | L>F | No |
ClinGen gnomAD |
|
|
CA7284702 rs762125621 |
157 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1300403452 CA390505456 |
157 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1385704526 CA390505465 |
158 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1056772208 CA263811419 |
163 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 165 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390505620 rs1441248619 |
166 | W>R | No |
ClinGen gnomAD |
|
|
CA390505640 rs1296383230 |
167 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774915089 CA7284715 |
168 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 168 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7284716 rs762892012 |
169 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1479744043 CA390505688 |
171 | A>T | No |
ClinGen TOPMed |
|
|
CA7284718 rs774313425 |
172 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs768540036 CA7284717 COSM958108 |
172 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7284719 rs761560263 |
173 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7284720 rs767329766 |
173 | T>N | No |
ClinGen ExAC |
|
|
CA7284723 rs199593647 |
175 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1194558694 CA390505742 |
175 | I>T | No |
ClinGen gnomAD |
|
|
CA7284722 rs199593647 |
175 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA263812585 rs80094934 |
176 | V>A | No |
ClinGen Ensembl |
|
|
CA390505769 rs1469284764 |
178 | V>I | No |
ClinGen TOPMed |
|
|
CA390505788 rs1463225495 |
179 | S>F | No |
ClinGen gnomAD |
|
|
rs961650316 CA263812590 |
180 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 184 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7284736 rs748110746 |
185 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA263814602 rs1037659280 |
188 | H>P | No |
ClinGen Ensembl |
|
|
rs1472659308 CA390506349 |
189 | S>N | No |
ClinGen gnomAD |
|
|
CA7284739 rs760996472 |
191 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1566628063 CA390506379 |
192 | S>F | No |
ClinGen Ensembl |
|
|
rs766664288 CA7284740 |
194 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7284741 rs776965066 |
196 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs898986379 CA263814631 |
201 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1405077329 CA390506508 |
202 | F>S | No |
ClinGen gnomAD |
|
|
rs1318562781 CA390506515 |
203 | M>T | No |
ClinGen gnomAD |
|
|
CA7284742 rs759743408 |
203 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993355550 CA263814637 |
205 | H>Y | No |
ClinGen Ensembl |
|
|
rs906288181 CA263814638 |
207 | C>Y | No |
ClinGen Ensembl |
|
|
CA390506555 rs1356043669 |
209 | G>E | No |
ClinGen gnomAD |
|
|
CA7284745 rs758876190 |
209 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1033761071 CA263814661 |
211 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1225750183 CA390506572 |
212 | P>A | No |
ClinGen gnomAD |
|
|
CA390506575 rs1285196189 |
212 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 213 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390506588 rs1246668055 |
214 | N>S | No |
ClinGen TOPMed |
|
|
CA7284748 rs368090046 |
215 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7284749 rs779730421 |
217 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 220 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7284756 rs746844752 |
222 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284757 rs770831305 |
223 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7284758 rs368356490 |
225 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7284760 rs765238389 |
229 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195095399 CA390506749 |
236 | L>F | No |
ClinGen gnomAD |
|
|
CA390506753 rs1187494883 |
237 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7284763 rs764622787 |
237 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA390506779 rs1165893840 |
240 | H>L | No |
ClinGen gnomAD |
|
|
rs143729173 CA390507166 |
242 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA263816556 rs769400928 |
243 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 249 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777420884 CA7284790 |
249 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs751550683 CA7284791 |
250 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA263816592 rs377548256 |
251 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs757204497 CA390507254 |
251 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757204497 CA7284792 |
251 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781159365 CA7284793 |
255 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7284794 rs745635624 |
256 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA390507316 rs1566628790 |
257 | Y>H | No |
ClinGen Ensembl |
|
|
rs749466106 CA7284797 |
258 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774355700 CA7284799 |
259 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390507380 rs1312615466 |
263 | I>V | No |
ClinGen gnomAD |
|
|
rs749577215 CA7284801 |
264 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7284803 rs761146924 |
267 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1236482864 CA390507452 |
268 | Q>L | No |
ClinGen gnomAD |
|
|
rs1427026464 CA390507461 |
269 | R>K | No |
ClinGen TOPMed |
|
|
CA390507520 rs754732283 |
270 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM264094 CA7284835 rs779152135 |
270 | R>H | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754732283 CA7284834 |
270 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 271 | H>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7284836 rs144979575 |
271 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368812909 CA7284839 |
274 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7284838 rs747557554 |
274 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263816951 rs965731518 |
276 | R>Q | No |
ClinGen Ensembl |
|
|
rs1234772039 CA390507585 |
276 | R>W | No |
ClinGen gnomAD |
|
|
CA390507634 rs1305711770 |
280 | T>I | No |
ClinGen gnomAD |
|
|
rs867886322 CA263816966 |
283 | A>G | No |
ClinGen Ensembl |
|
|
CA390507664 rs1253216805 |
283 | A>T | No |
ClinGen gnomAD |
|
|
rs1458247510 CA390507679 |
284 | K>R | No |
ClinGen gnomAD |
|
|
rs1251398714 CA390507753 |
288 | K>R | No |
ClinGen gnomAD |
|
|
CA390507786 rs1192144357 |
291 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390507800 rs1419182498 |
293 | I>L | No |
ClinGen gnomAD |
|
|
CA7284843 rs770262889 |
293 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs774212969 CA7284844 |
294 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs761489071 CA390507825 |
295 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761489071 CA7284845 |
295 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390507874 rs1460443811 |
297 | A>V | No |
ClinGen gnomAD |
|
|
rs771625646 CA7284846 |
298 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7284847 rs191908671 |
298 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7284848 rs191908671 |
298 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766263749 CA7284849 |
299 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7284851 rs759380490 |
307 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914144104 CA263817663 |
311 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390508241 rs1357501933 |
313 | A>T | No |
ClinGen gnomAD |
|
|
CA390508265 rs1448873323 |
315 | Q>* | No |
ClinGen gnomAD |
|
|
rs1371458896 CA390508335 |
319 | E>K | No |
ClinGen gnomAD |
|
|
rs1225621149 CA390508354 |
320 | L>V | No |
ClinGen gnomAD |
|
|
CA390508400 rs1287278408 |
323 | Q>* | No |
ClinGen gnomAD |
|
|
CA7284871 rs763270698 |
325 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA390508455 rs917075810 |
326 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 326 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370285268 CA7284873 |
327 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390508511 rs781352402 |
330 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7284875 rs781352402 |
330 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7284877 rs756640588 |
334 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284878 rs199846522 |
334 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390508602 rs1409230662 |
335 | V>A | No |
ClinGen gnomAD |
|
|
rs769038998 CA390508593 |
335 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769038998 CA7284880 |
335 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390508616 rs1352837678 |
336 | P>L | No |
ClinGen gnomAD |
|
|
CA390508653 rs769683393 |
339 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769683393 CA7284886 |
339 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776064361 CA7284885 |
339 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1445387573 CA390508764 |
346 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201624931 CA7284889 |
347 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390508779 rs1198937253 |
348 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs774505348 CA7284890 |
348 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA390508815 rs1340641887 |
350 | S>P | No |
ClinGen TOPMed |
|
|
rs1377926028 CA390508837 |
351 | R>S | No |
ClinGen gnomAD |
|
|
rs767725907 CA7284892 |
353 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294434386 CA390508856 |
353 | A>S | No |
ClinGen TOPMed |
|
|
rs750489483 CA390508880 |
355 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750489483 CA7284893 |
355 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775465316 COSM1371242 CA7284905 |
357 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201848457 CA7284906 |
357 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7284907 rs201848457 |
357 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1401076679 CA390509637 |
359 | D>G | No |
ClinGen gnomAD |
|
|
CA7284908 rs774146069 |
359 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1401076679 CA390509640 |
359 | D>V | No |
ClinGen gnomAD |
|
|
CA390509686 rs1292196327 |
361 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA390509684 rs1292196327 |
361 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390509724 rs1246599836 |
363 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390509757 rs1265689592 |
366 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390509805 rs767892007 |
369 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767892007 CA7284910 |
369 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA390509828 rs1320751777 |
370 | Q>R | No |
ClinGen TOPMed |
|
|
CA7284912 rs760891902 |
374 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7284913 rs766559868 |
377 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA7284914 rs201023823 |
377 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374759104 CA7284915 |
378 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA390509949 rs1369301142 |
379 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1369301142 CA390509945 |
379 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390509964 rs1453237863 |
380 | S>P | No |
ClinGen gnomAD |
|
|
rs765545977 CA7284916 |
384 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1399455844 CA390510092 |
385 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA390510083 rs1297549736 |
385 | V>F | No |
ClinGen TOPMed |
|
|
CA263819302 rs367657337 |
390 | H>Y | No |
ClinGen ESP gnomAD |
|
|
rs780871649 CA7284920 |
393 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs780871649 CA7284919 |
393 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA263819339 rs376776579 |
396 | W>* | No |
ClinGen ESP |
|
|
CA390510418 rs1594867651 |
398 | H>P | No |
ClinGen Ensembl |
|
|
CA390510427 rs1196774404 |
398 | H>Q | No |
ClinGen gnomAD |
|
|
CA390510416 rs1566629855 |
398 | H>Y | No |
ClinGen Ensembl |
|
|
rs1240298789 CA390510440 |
400 | S>P | No |
ClinGen gnomAD |
|
|
CA7284938 rs777137473 |
402 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767018865 CA263819773 |
402 | R>H | No |
ClinGen Ensembl |
|
|
rs1193424457 CA390510470 |
403 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7284939 rs369601825 |
403 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193424457 CA390510467 |
403 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390510497 rs1359416877 |
405 | F>S | No |
ClinGen TOPMed |
|
|
rs1435492535 CA390510519 |
407 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA263819780 rs879128335 |
408 | A>S | No |
ClinGen Ensembl |
|
|
rs929064849 CA263819787 |
409 | R>H | No |
ClinGen Ensembl |
|
|
CA390510598 rs1460044127 |
411 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390510610 rs748952075 |
412 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748952075 CA7284942 |
412 | A>T | Variant assessed as Somatic; 9.286e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390510615 rs1594867688 |
412 | A>V | No |
ClinGen Ensembl |
|
|
rs370102625 CA7284943 |
413 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284944 rs771994284 |
415 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1594867696 CA390510665 |
415 | T>P | No |
ClinGen Ensembl |
|
|
rs1369455860 CA390510694 |
417 | L>V | No |
ClinGen gnomAD |
|
|
CA7284945 rs777651423 |
421 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439974442 CA390510769 |
421 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 421 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571421928 CA7284946 |
423 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390510830 rs1262486384 |
424 | L>F | No |
ClinGen TOPMed |
|
|
CA390510843 rs1566629909 |
425 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 425 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1566629909 CA390510841 |
425 | T>P | No |
ClinGen Ensembl |
|
|
CA7284949 rs376516019 |
426 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM958111 rs776132328 CA7284951 |
428 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763385437 CA7284952 |
429 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA263819863 rs368880696 |
431 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1043222165 CA263819853 |
431 | M>T | No |
ClinGen Ensembl |
|
|
CA263819848 rs1013159682 |
431 | M>V | No |
ClinGen TOPMed |
|
|
CA390510969 rs1261676618 |
433 | T>A | No |
ClinGen gnomAD |
|
|
CA7284954 rs751878945 |
434 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766103237 CA390510985 |
434 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7284955 rs762132234 |
434 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA390510979 rs751878945 |
434 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7284958 rs754580221 |
435 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs753419467 CA7284957 |
435 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778215834 CA7284959 |
436 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 439 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765426661 CA7284962 |
439 | V>I | Variant assessed as Somatic; 4.661e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390511049 rs1594867752 |
440 | T>P | No |
ClinGen Ensembl |
|
|
CA7284963 rs746843133 |
441 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7284964 rs763288885 |
441 | R>H | Variant assessed as Somatic; 4.664e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781538979 CA7284965 |
442 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA7284967 rs372442995 |
443 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222776549 CA390490505 |
443 | I>T | No |
ClinGen gnomAD |
|
|
rs746073864 CA7284966 COSM1229726 |
443 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7284969 rs749819407 |
444 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263318197 CA390490599 |
447 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 447 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263318197 CA390490593 |
447 | Q>K | No |
ClinGen gnomAD |
|
|
rs774901012 CA7284989 |
450 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs570674323 CA7284988 |
450 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332337079 CA390491016 |
453 | Q>E | No |
ClinGen gnomAD |
|
|
rs1360957989 CA390491031 |
453 | Q>H | No |
ClinGen gnomAD |
|
|
CA390491064 rs1279165654 |
455 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390491086 rs1566630372 |
459 | M>V | No |
ClinGen Ensembl |
|
|
CA390491095 rs1467914444 |
460 | L>F | No |
ClinGen TOPMed |
|
|
rs1251061382 CA390491104 |
461 | W>L | No |
ClinGen TOPMed |
|
|
rs138823818 CA7284991 |
462 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390491122 rs1242805129 |
464 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7284992 rs773398622 |
465 | V>M | No |
ClinGen ExAC |
|
|
CA390491136 rs1310377188 |
466 | I>T | No |
ClinGen gnomAD |
|
|
CA390491139 rs376049742 |
467 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs573613212 CA7284994 |
468 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs573613212 CA263784537 |
468 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7284995 rs775261682 |
470 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7284996 rs762610830 |
471 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA390491371 rs1594868291 |
472 | Y>S | No |
ClinGen Ensembl |
|
|
rs199558533 CA7284998 |
475 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390491453 rs1300166151 |
476 | F>S | No |
ClinGen TOPMed |
|
|
rs767370636 CA7285000 |
479 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs575450259 CA7285022 |
485 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390493825 rs575450259 |
485 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7285023 rs755143841 |
487 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1289189081 CA390493923 |
490 | M>I | No |
ClinGen gnomAD |
|
|
CA390493979 rs1325869098 |
493 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390494001 rs1332194996 |
494 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 494 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 495 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594868808 CA390494079 |
498 | L>P | No |
ClinGen Ensembl |
|
|
rs1399915121 CA390494114 |
500 | F>S | No |
ClinGen gnomAD |
|
|
CA390494122 rs1275827831 |
501 | M>L | No |
ClinGen gnomAD |
|
|
CA390494125 rs1275827831 |
501 | M>V | No |
ClinGen gnomAD |
|
|
CA263785683 rs1020947987 |
504 | I>T | No |
ClinGen Ensembl |
|
|
rs758483728 CA7285026 |
505 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs747546793 CA7285028 |
508 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7285027 rs369735345 |
508 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211418591 CA390494249 |
509 | G>E | No |
ClinGen gnomAD |
|
|
rs769534290 CA263785689 |
511 | T>S | No |
ClinGen Ensembl |
|
|
rs200817230 CA7285043 |
514 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7285045 rs758474883 |
518 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7285046 rs764168685 |
518 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390494470 rs1439491149 |
519 | W>C | No |
ClinGen gnomAD |
|
|
rs1234271384 CA390494452 |
519 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757793239 CA7285048 |
521 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs746276863 CA7285050 |
523 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA263786137 rs945544444 |
523 | I>T | No |
ClinGen Ensembl |
|
|
CA390494546 rs1301812490 |
523 | I>V | No |
ClinGen gnomAD |
|
|
CA7285051 rs756530586 |
524 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1334427561 CA390494598 |
525 | Y>C | No |
ClinGen gnomAD |
|
|
CA390494592 rs1334427561 |
525 | Y>S | No |
ClinGen gnomAD |
|
|
CA390494608 rs1375650069 |
526 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1366353247 CA390494635 |
527 | E>G | No |
ClinGen TOPMed |
|
|
CA7285052 rs778493713 |
530 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA390494732 rs1311111400 |
531 | I>V | No |
ClinGen gnomAD |
|
|
rs187745061 CA7285053 |
534 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA263787505 rs898742886 |
540 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 540 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995753537 CA263787510 |
542 | G>D | No |
ClinGen Ensembl |
|
|
CA390495806 rs1325893697 |
542 | G>S | No |
ClinGen TOPMed |
|
|
CA263787534 COSM1229724 rs180758756 |
543 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs570801146 CA263787566 |
543 | A>V | No |
ClinGen gnomAD |
|
|
rs746569781 CA7285073 |
546 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs770416697 CA7285074 |
547 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1371244 rs1221318833 CA390496021 |
551 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA263787604 rs1002883091 |
555 | L>P | No |
ClinGen Ensembl |
|
|
rs1489794814 CA390496116 |
555 | L>V | No |
ClinGen gnomAD |
|
|
CA263787618 rs79134381 |
556 | G>C | No |
ClinGen Ensembl |
|
|
CA390496186 rs1200747023 |
558 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775310673 CA7285078 |
559 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs763118485 CA7285079 |
563 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374646311 CA7285080 |
563 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419791387 CA390496368 |
566 | S>A | No |
ClinGen gnomAD |
|
|
CA390496372 rs1419791387 |
566 | S>P | No |
ClinGen gnomAD |
|
|
rs1162499687 CA390496522 |
570 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1351398958 CA390496550 |
571 | S>T | No |
ClinGen gnomAD |
|
|
rs762049005 CA7285082 |
572 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs201638419 CA7285083 |
573 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7285084 rs750976794 |
573 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7285085 rs750976794 |
573 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390496603 rs1354406616 |
575 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766683743 CA7285086 |
577 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1311082269 CA390496836 |
581 | P>L | No |
ClinGen gnomAD |
|
|
CA263787699 rs777144930 |
581 | P>T | No |
ClinGen Ensembl |
|
|
CA7285088 rs755273487 |
582 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 582 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7285089 rs777458181 |
583 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390496914 rs1594869629 |
584 | V>A | No |
ClinGen Ensembl |
|
|
rs756766546 CA7285091 |
585 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390496954 rs1218180008 |
588 | K>M | No |
ClinGen gnomAD |
|
|
CA7285101 rs773381771 |
589 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA390497081 rs1177841139 |
590 | Q>H | No |
ClinGen gnomAD |
|
|
CA390497096 rs1378249257 |
591 | A>G | No |
ClinGen gnomAD |
|
|
rs1378249257 CA390497097 |
591 | A>V | No |
ClinGen gnomAD |
|
|
rs1424311785 CA390497132 |
593 | D>G | No |
ClinGen gnomAD |
|
|
rs1159058237 CA390497124 |
593 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7285103 rs760639009 |
594 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA390497167 rs1429612957 |
595 | Q>H | No |
ClinGen TOPMed |
|
|
rs1183604566 CA390497192 |
597 | G>E | No |
ClinGen gnomAD |
|
|
rs551699396 CA7285104 |
598 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7285105 rs191028187 |
598 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551699396 CA263788063 |
598 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7285106 rs760014393 |
599 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM958115 CA7285108 rs749012437 |
601 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774271713 CA7285110 |
603 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7285111 rs749993431 |
604 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA390497301 rs1410867291 |
605 | N>S | No |
ClinGen gnomAD |
|
|
CA390497311 rs1197588876 |
606 | V>A | No |
ClinGen gnomAD |
|
|
CA7285113 rs780100397 |
606 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA390497306 rs780100397 |
606 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7285116 rs369304716 |
609 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7285115 rs768582544 |
609 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7285117 rs200050021 |
610 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7285118 rs772463255 |
612 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7285119 rs373141508 |
612 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777200529 CA7285122 |
617 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA390497490 rs1315765269 |
620 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390497497 rs1329896197 |
621 | V>L | No |
ClinGen gnomAD |
|
|
rs763369004 CA7285145 |
626 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390497656 rs1283420799 |
627 | Y>H | No |
ClinGen gnomAD |
|
|
CA390497692 rs1353963607 |
630 | M>L | No |
ClinGen gnomAD |
|
|
CA263788714 rs993108460 |
630 | M>T | No |
ClinGen Ensembl |
|
|
rs1211362867 COSM1158195 CA390497767 |
634 | T>M | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA7285148 rs369183388 COSM1229722 |
636 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
|
rs1216059817 CA390497859 |
639 | M>I | No |
ClinGen gnomAD |
|
|
CA390497852 rs1487889013 |
639 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753325329 CA7285150 |
640 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7285151 rs754513534 |
642 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 644 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368068417 CA390497998 |
647 | K>N | No |
ClinGen gnomAD |
|
|
rs572480374 CA263788768 |
648 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA263788770 rs752675016 |
649 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777375077 CA7285155 |
650 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758271321 CA7285154 |
650 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263788799 rs948918590 |
651 | Q>H | No |
ClinGen Ensembl |
|
|
CA390498105 rs1295877594 |
653 | H>R | No |
ClinGen gnomAD |
|
|
rs373802279 CA7285157 |
654 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7285156 VAR_031193 rs2287384 |
654 | M>V | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA263788839 rs267604060 |
655 | A>V | No |
ClinGen Ensembl |
|
|
CA7285159 rs746001065 |
657 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390498194 rs1247917827 |
658 | S>F | No |
ClinGen gnomAD |
|
|
rs769854944 CA7285160 |
659 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA390498205 rs1594870018 |
659 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 660 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352986079 CA390498235 |
661 | I>V | No |
ClinGen gnomAD |
|
|
CA390498254 rs1566631676 |
662 | F>I | No |
ClinGen Ensembl |
|
|
rs751550335 CA7285162 |
663 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390498316 rs1292009658 |
665 | L>F | No |
ClinGen TOPMed |
|
|
CA7285165 rs762203000 |
667 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs374426121 CA7285167 |
671 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA263788890 rs201210342 |
672 | L>M | No |
ClinGen 1000Genomes |
|
|
CA390498520 rs1244124519 |
673 | F>V | No |
ClinGen gnomAD |
|
|
rs759183649 CA7285168 |
674 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390498592 rs1157358235 |
675 | S>A | No |
ClinGen gnomAD |
|
|
CA263788918 rs890489717 |
675 | S>F | No |
ClinGen Ensembl |
|
|
CA390498650 rs1594870043 |
677 | L>R | No |
ClinGen Ensembl |
|
|
CA390498640 rs1453891197 |
677 | L>V | No |
ClinGen gnomAD |
|
|
rs1399688353 COSM1371248 CA390498668 |
678 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752693527 CA390498664 |
678 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1325377900 CA390498687 |
679 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 680 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550608459 CA7285172 |
680 | G>S | No |
ClinGen 1000Genomes ExAC |
|
|
CA390499420 rs1284199359 |
681 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390499423 rs1284199359 |
681 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1317451186 CA390499443 |
683 | H>R | No |
ClinGen gnomAD |
|
|
CA7285190 rs763988884 |
684 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7285191 rs751504689 |
684 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336703249 CA390499483 |
686 | T>N | No |
ClinGen TOPMed |
|
|
rs1213924137 CA390499492 |
687 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 689 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7285195 rs756284868 |
694 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1476630776 CA390499615 |
696 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 697 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7285197 rs544711934 |
697 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7285196 rs200544692 |
697 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390499665 rs1271848488 |
698 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 698 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290655884 CA390499746 |
702 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748619669 CA7285200 |
704 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA390499846 rs1325519187 |
705 | F>V | No |
ClinGen TOPMed |
|
|
rs778233191 CA7285202 |
710 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7285201 rs368317526 |
710 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1009517621 CA263791089 |
712 | V>I | No |
ClinGen Ensembl |
|
|
CA390500089 rs1212995462 COSM196524 |
714 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 716 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7285206 rs368565249 |
716 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368565249 CA7285205 |
716 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7285231 rs772042086 |
717 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs377757196 CA263792493 |
717 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390501598 rs377757196 |
717 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390501614 rs773117217 |
718 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773117217 CA7285234 |
718 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263792513 rs936403622 |
723 | Q>K | No |
ClinGen Ensembl |
|
|
rs766095189 CA7285236 |
725 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA390501887 rs1447572774 |
726 | F>I | No |
ClinGen gnomAD |
|
|
CA390502013 rs1453768022 |
729 | E>D | No |
ClinGen gnomAD |
|
|
CA7285238 rs759754788 |
729 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1309215030 CA390502055 |
731 | S>R | No |
ClinGen gnomAD |
|
|
rs1594871365 CA390502092 |
733 | T>A | No |
ClinGen Ensembl |
|
|
rs1594871365 CA390502089 |
733 | T>P | No |
ClinGen Ensembl |
|
|
rs951368249 CA263792590 |
733 | T>S | No |
ClinGen Ensembl |
|
|
rs1224982578 CA390502153 |
735 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7285240 rs752862222 |
736 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA7285242 rs764757060 |
737 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390503187 rs1167766251 |
742 | Y>* | No |
ClinGen gnomAD |
|
|
CA390503219 rs1411953483 |
745 | T>A | No |
ClinGen gnomAD |
|
|
rs762365858 CA7285262 |
746 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767806822 CA7285263 |
747 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA390503266 rs1345821414 |
749 | E>Q | No |
ClinGen gnomAD |
|
|
CA7285265 rs756417038 |
750 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756417038 CA390503291 |
750 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 751 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7285267 rs752277709 |
753 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390503364 rs1266333761 |
754 | L>M | No |
ClinGen TOPMed |
|
|
rs181306066 CA390503376 |
755 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7285268 rs181306066 |
755 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs544095975 CA7285271 |
757 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 761 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390503533 rs1192776666 |
762 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1371512027 CA390503572 |
764 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA390503569 rs1319945114 |
764 | T>S | No |
ClinGen TOPMed |
|
|
CA7285273 rs745733723 |
768 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs769474866 CA7285274 |
769 | N>S | No |
ClinGen ExAC |
|
|
rs775788838 CA7285275 |
771 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA7285276 rs199845918 |
772 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423282803 CA390503675 |
772 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 772 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774536682 CA7285278 |
773 | E>G | No |
ClinGen ExAC |
|
|
CA7285280 rs376169418 |
774 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390503699 rs376169418 |
774 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA7285281 rs370276426 |
774 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390503712 rs988905593 CA263795246 |
775 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761103726 CA7285283 |
778 | E>A | No |
ClinGen ExAC gnomAD |
|
|
COSM958118 rs766593437 CA7285285 |
778 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 782 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7285288 rs548931818 |
783 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390503812 rs1566633693 |
783 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs756710566 COSM1268130 CA7285289 |
785 | A>V | Variant assessed as Somatic; 9.286e-05 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs957720020 CA263795324 |
787 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs988251230 CA263795329 |
788 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1185986814 CA390503896 |
789 | D>E | No |
ClinGen gnomAD |
|
|
CA7285292 rs745727108 |
789 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs185516701 CA7285293 COSM470269 |
790 | S>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA390503911 rs1203028557 |
791 | A>P | No |
ClinGen TOPMed |
|
|
CA263795366 rs77785033 |
792 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs77785033 CA7285295 |
792 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7285296 rs769044294 |
795 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748302096 CA7285299 |
796 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774697874 CA7285297 |
796 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144586609 CA7285300 |
799 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144586609 CA390504016 |
799 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1040489498 CA263795406 |
800 | E>K | No |
ClinGen TOPMed |
|
|
CA7285303 rs199615151 CA7285302 |
803 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q9P1W3
No regional properties for Q9P1W3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9P1W3 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 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. |
| 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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cation transport | The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| glomerular filtration | The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O94886 | TMEM63A | CSC1-like protein 1 | Homo sapiens (Human) | PR |
| Q5T3F8 | TMEM63B | CSC1-like protein 2 | 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 |
| MSASPDDLST | GGRLQNMTVD | ECFQSRNTVL | QGQPFGGVPT | VLCLNIALWV | LVLVVYSFLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KAAWDYGRLA | LLIHNDSLTS | LIYGEQSEKT | SPSETSLEME | RRDKGFCSWF | FNSITMKDED |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LINKCGDDAR | IYIVFQYHLI | IFVLIICIPS | LGIILPINYT | GSVLDWSSHF | ARTTIVNVST |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ESKLLWLHSL | LSFFYFITNF | MFMAHHCLGF | APRNSQKVTR | TLMITYVPKD | IEDPELIIKH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FHEAYPGSVV | TRVHFCYDVR | NLIDLDDQRR | HAMRGRLFYT | AKAKKTGKVM | IRIHPCARLC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FCKCWTCFKE | VDAEQYYSEL | EEQLTDEFNA | ELNRVPLKRL | DLIFVTFQDS | RMAKRVRKDY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KYVQCGVQPQ | QSSVTTIVKS | YYWRVTMAPH | PKDIIWKHLS | VRRFFWWARF | IAINTFLFFL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FFFLTTPAII | MNTIDMYNVT | RPIEKLQNPI | VTQFFPSVML | WGFTVILPLI | VYFSAFLEAH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| WTRSSQNLVM | VHKCYIFLVF | MVVILPSMGL | TSLDVFLRWL | FDIYYLEQAS | IRFQCVFLPD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NGAFFVNYVI | TAALLGTGME | LLRLGSLFCY | STRLFFSRSE | PERVNIRKNQ | AIDFQFGREY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AWMMNVFSVV | MAYSITCPII | VPFGLLYLCM | KHLTDRYNMY | YSFAPTKLNE | QIHMAAVSQA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IFAPLLGLFW | MLFFSILRLG | SLHAITIFSL | STLLIAMVIA | FVGIFLGKLR | MVADYEPEEE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EIQTVFDMEP | SSTSSTPTSL | LYVATVLQEP | ELNLTPASSP | ARHTYGTMNN | QPEEGEEESG |
| 790 | 800 | ||||
| LRGFARELDS | AQFQEGLELE | GQNQYH |