Q16322
PR
Gene name |
KCNA10 |
Protein name |
Potassium voltage-gated channel subfamily A member 10 |
Names |
Voltage-gated potassium channel subunit Kv1.8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3744 |
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 Q16322
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q16322-F1 | Predicted | AlphaFoldDB |
504 variants for Q16322
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA341606424 rs1363341683 |
2 | D>G | No |
ClinGen gnomAD |
|
|
CA341606429 rs1411409443 |
2 | D>N | No |
ClinGen TOPMed |
|
|
rs1557707129 CA341606409 |
3 | V>L | No |
ClinGen Ensembl |
|
|
CA341606411 rs1557707129 |
3 | V>M | No |
ClinGen Ensembl |
|
|
CA1000579 rs776029014 |
4 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1000578 rs770640980 |
5 | G>A | No |
ClinGen ExAC |
|
| TCGA novel | 6 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746673475 CA1000577 |
7 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1000576 rs777134197 |
9 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341606288 rs1570715632 |
11 | V>G | No |
ClinGen Ensembl |
|
|
CA341606292 rs1430297203 |
11 | V>L | No |
ClinGen gnomAD |
|
|
rs757996287 CA1000575 |
12 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341606248 rs1271352642 |
14 | V>A | No |
ClinGen gnomAD |
|
|
rs139749324 CA1000570 |
17 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753595087 CA1000571 |
17 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA341606184 rs1557707104 |
19 | S>A | No |
ClinGen Ensembl |
|
|
CA341606173 rs1319210765 |
20 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 20 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000569 rs756313014 |
26 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs115598075 CA1000568 |
27 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115598075 CA341606064 |
27 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000567 rs767461414 |
29 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375119085 CA1000562 |
33 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1000563 rs375119085 |
33 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1000560 rs372139246 |
35 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372139246 CA1000561 |
35 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1000559 rs746656971 |
36 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs771463924 CA1000557 |
37 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1000558 rs772959099 |
37 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000556 rs772494192 |
39 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000555 rs139383016 |
40 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1002774806 CA28803389 |
40 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA341605878 rs1557707062 |
42 | G>E | No |
ClinGen Ensembl |
|
|
CA1000553 rs749277460 |
42 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA341605874 rs1557707062 |
42 | G>V | No |
ClinGen Ensembl |
|
|
CA1000551 rs549066291 |
43 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs199979719 CA28803335 |
44 | S>I | No |
ClinGen Ensembl |
|
|
rs750585872 CA1000550 |
44 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1000549 rs201611587 |
47 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1000548 rs751590976 |
48 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1000545 CA1000546 rs376350378 |
49 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753324321 CA1000544 |
50 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765667912 CA1000543 |
51 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs776884567 CA341605719 |
54 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000540 COSM1294714 rs375380259 |
55 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341605674 rs1408018061 |
57 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1570715496 CA341605683 |
57 | T>P | No |
ClinGen Ensembl |
|
|
CA341605676 rs1408018061 |
57 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 58 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000538 rs773796325 |
60 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148829307 CA341605618 |
61 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1000536 rs148829307 COSM312142 |
61 | T>M | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1000534 rs769742463 |
62 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341605553 rs1294095362 |
66 | L>I | No |
ClinGen TOPMed |
|
|
rs868838468 CA28803215 |
67 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs868838468 CA341605533 |
67 | P>Q | No |
ClinGen gnomAD |
|
|
CA1000531 rs757442247 |
68 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA341605502 rs921489394 |
69 | D>E | No |
ClinGen gnomAD |
|
|
CA1000530 rs751787719 |
71 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1000529 COSM1497790 rs140376600 |
72 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758592054 CA1000528 |
73 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1467359347 CA341605457 |
73 | P>T | No |
ClinGen TOPMed |
|
|
rs754168137 CA1000525 |
74 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341605445 rs754168137 |
74 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000524 rs754168137 |
74 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000522 rs766671278 |
75 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 77 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs912222512 CA28803163 |
78 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1000521 rs761518775 |
79 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341605366 rs1252671045 |
80 | V>A | No |
ClinGen gnomAD |
|
|
rs1381482305 CA341605372 |
80 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1000519 rs140742991 |
83 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774028773 CA1000520 |
83 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341605324 rs1290805757 |
83 | E>V | No |
ClinGen gnomAD |
|
|
CA341605297 rs1490501892 |
85 | N>S | No |
ClinGen Ensembl |
|
|
CA341605266 rs769703694 |
87 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769703694 CA1000516 |
87 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM201132 rs200254580 CA1000518 |
87 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368764831 CA1000515 |
89 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371428121 CA1000514 |
91 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371428121 CA341605218 |
91 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341605205 rs1211822009 |
92 | I>T | No |
ClinGen gnomAD |
|
|
CA1000512 rs150009335 |
92 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341605191 rs1361935387 |
93 | A>S | No |
ClinGen TOPMed |
|
|
CA1000510 rs369996397 |
94 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374575317 CA28803083 |
94 | G>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA341605177 rs1232953393 |
95 | L>M | No |
ClinGen TOPMed |
|
|
rs113755109 CA28803073 |
96 | R>G | No |
ClinGen Ensembl |
|
|
CA28803059 rs1002743758 |
98 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs147506944 CA1000509 |
101 | L>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1226634420 CA341605036 |
102 | R>S | No |
ClinGen gnomAD |
|
|
CA1000508 rs779142461 |
104 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1284688336 CA341605008 |
105 | S>N | No |
ClinGen gnomAD |
|
|
CA341604985 rs1400833399 |
106 | Q>H | No |
ClinGen gnomAD |
|
|
rs139316514 CA1000507 |
106 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341604922 rs1365250697 |
111 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1365250697 CA341604924 |
111 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs141128096 COSM3788418 CA1000505 |
113 | G>E | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA341604902 rs1407191377 |
113 | G>R | No |
ClinGen gnomAD |
|
|
rs148190888 CA341604890 |
114 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148190888 CA1000504 |
114 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150926393 CA1000502 |
115 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750806540 CA1000503 |
115 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281174 CA341604857 |
116 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000500 rs140343405 |
117 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477933143 CA341604849 |
117 | K>R | No |
ClinGen gnomAD |
|
|
rs759514030 CA1000498 |
119 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs759514030 CA341604834 |
119 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359234726 CA341604837 |
119 | M>V | No |
ClinGen TOPMed |
|
|
rs1449480018 CA341604823 |
120 | Q>H | No |
ClinGen TOPMed |
|
|
rs1315327173 CA341604793 |
124 | S>F | No |
ClinGen TOPMed |
|
|
CA341604752 rs1195088864 CA341604754 |
128 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1303596144 CA341604757 |
128 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1000496 rs767934594 |
128 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279843710 CA341604701 |
132 | D>Y | No |
ClinGen gnomAD |
|
|
rs150165049 CA1000493 |
133 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773174747 CA1000494 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1000490 rs755048620 |
135 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749776998 CA1000489 |
135 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000491 rs755048620 |
135 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61784690 CA28802904 |
136 | P>S | No |
ClinGen Ensembl |
|
|
CA341604664 rs1328272249 |
137 | S>C | No |
ClinGen gnomAD |
|
|
rs780373581 CA1000488 |
138 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1000487 rs756672651 COSM414189 |
139 | D>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs763909105 CA1000486 |
141 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427669272 CA341604604 |
143 | Y>C | No |
ClinGen gnomAD |
|
|
rs1468343165 CA341604611 |
143 | Y>H | No |
ClinGen TOPMed |
|
|
rs758031902 CA1000484 |
145 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000483 rs752413000 |
146 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs866497601 CA28802857 |
149 | G>E | No |
ClinGen Ensembl |
|
|
CA28802845 rs764773118 |
152 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000481 rs759017640 |
152 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764773118 CA1000482 COSM261490 |
152 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs41281370 CA1000480 |
153 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373944479 CA1000479 |
153 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28802815 rs373944479 |
153 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28802820 rs373944479 |
153 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322502876 CA341604448 |
155 | A>D | No |
ClinGen gnomAD |
|
|
CA28802813 rs867102815 |
155 | A>T | No |
ClinGen Ensembl |
|
|
CA1000477 rs370920016 |
156 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1000478 rs760695987 |
156 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772053769 CA1000476 |
158 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1440167916 CA341604399 |
159 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200287717 CA1000475 |
159 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332578152 CA341604382 |
160 | D>E | No |
ClinGen gnomAD |
|
|
rs774482195 CA1000474 |
160 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1000473 rs768941254 |
161 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1000472 rs144774548 |
163 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144774548 CA341604332 |
163 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780184227 CA1000471 |
165 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 166 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746431062 CA1000469 |
167 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341604253 rs752373457 |
169 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000466 rs752373457 |
169 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571639096 CA28802719 |
171 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs571639096 CA341604225 |
171 | L>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs376103507 CA1000465 |
172 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA341604224 rs1241029597 |
172 | G>S | No |
ClinGen gnomAD |
|
|
CA1000463 rs1553175668 |
175 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 175 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753223141 CA1000461 |
177 | D>G | No |
ClinGen ExAC |
|
|
CA341602959 rs1222307337 |
178 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341602963 rs1222307337 |
178 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1355876832 CA341602944 |
179 | F>C | No |
ClinGen gnomAD |
|
|
CA1000460 rs765928992 |
179 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs369629264 CA341602930 |
180 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341602932 rs369629264 |
180 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000458 rs369629264 |
180 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000459 rs199873651 |
180 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341602908 rs1557706811 |
182 | D>E | No |
ClinGen Ensembl |
|
|
rs1454273672 CA341602910 |
182 | D>G | No |
ClinGen TOPMed |
|
|
rs1304939175 CA341602915 |
182 | D>Y | No |
ClinGen gnomAD |
|
|
rs200976866 CA1000457 |
184 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341602887 rs1168981336 COSM361394 |
184 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA1000456 rs200976866 |
184 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201185927 CA1000455 |
185 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1000454 rs768692081 |
186 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1000453 rs763248061 |
188 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28802630 rs951448890 |
189 | P>T | No |
ClinGen gnomAD |
|
|
rs775411422 CA1000451 |
191 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1000449 rs746369770 |
195 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs529447404 CA1000447 |
196 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs867498115 CA28802608 |
197 | D>N | No |
ClinGen gnomAD |
|
|
CA341602719 rs867498115 |
197 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs747269461 CA1000446 |
198 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs564044639 CA1000444 |
199 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1000443 rs150505266 COSM1332611 |
200 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
VAR_036778 COSM33068 rs755748044 CA1000441 |
200 | R>H | upper_aerodigestive_tract large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA1000442 rs755748044 |
200 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749970355 CA1000440 |
202 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs941571300 CA28802561 |
203 | W>C | No |
ClinGen TOPMed |
|
|
CA1000439 rs377705852 |
203 | W>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341602622 rs1469478515 |
203 | W>L | No |
ClinGen TOPMed |
|
|
rs761875663 CA1000438 |
205 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751266085 CA1000437 |
205 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1298246953 CA341602520 |
209 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1298246953 CA341602524 |
209 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1000435 rs764000292 |
211 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341602479 rs764000292 |
211 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374482810 CA341602429 |
213 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs576123443 CA1000433 |
214 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs145359099 CA28802544 |
215 | A>D | No |
ClinGen ESP TOPMed |
|
|
rs1418524684 CA341602411 |
215 | A>S | No |
ClinGen gnomAD |
|
|
CA1000431 rs759553996 |
216 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145189152 CA1000430 |
216 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341602397 rs145189152 |
216 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145189152 CA341602398 |
216 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1457345782 CA341602394 |
217 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771385717 CA1000429 |
218 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042348824 CA28802515 |
218 | V>L | No |
ClinGen Ensembl |
|
|
CA1000427 rs34970857 |
220 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000426 rs34970857 VAR_036779 |
220 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1336657091 CA341602298 |
221 | V>I | No |
ClinGen TOPMed |
|
|
CA28802490 rs1054163154 COSM1332607 |
222 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1000424 rs779800189 |
223 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755836224 CA1000423 |
225 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272109338 CA341602203 |
225 | V>F | No |
ClinGen TOPMed |
|
|
CA341602174 rs1220895318 |
226 | V>A | No |
ClinGen gnomAD |
|
|
rs981219610 CA28802486 |
227 | V>F | No |
ClinGen Ensembl |
|
|
CA341602137 rs1570715051 |
228 | I>T | No |
ClinGen Ensembl |
|
|
rs745334063 CA1000422 |
228 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907733300 CA28802476 |
230 | I>V | No |
ClinGen Ensembl |
|
|
CA28802470 rs774660271 |
231 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1000419 rs141420700 |
232 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141420700 CA1000420 |
232 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1000421 rs780874040 |
232 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000418 rs763794062 |
233 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs752502556 CA1000416 |
234 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs758272314 CA1000417 |
234 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs952028901 CA28802417 |
235 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371703420 CA1000414 |
237 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454387395 CA341601928 |
237 | T>I | No |
ClinGen TOPMed |
|
|
rs1269549902 CA341601893 |
240 | E>K | No |
ClinGen gnomAD |
|
|
rs147892090 CA1000411 |
242 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000412 rs147892090 COSM381246 |
242 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776640538 COSM201130 CA1000413 |
242 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA28802402 rs866160623 |
244 | D>N | No |
ClinGen Ensembl |
|
|
CA28802387 rs964100523 |
245 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773832374 CA1000410 |
245 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341601779 rs1412653473 |
246 | E>K | No |
ClinGen TOPMed |
|
|
rs1232075362 CA341601718 |
248 | K>R | No |
ClinGen gnomAD |
|
|
rs748482726 CA1000408 |
249 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341601686 rs1008344597 |
250 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1008344597 CA28802368 |
250 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1008344597 CA341601690 |
250 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1000407 rs774890383 |
251 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA341601633 rs1488438379 |
252 | D>A | No |
ClinGen gnomAD |
|
|
COSM893689 rs1258500035 CA341601646 |
252 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1372021877 CA341601615 |
253 | P>S | No |
ClinGen gnomAD |
|
|
RCV000955745 CA1000405 rs11806812 |
254 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1000404 rs780820684 |
256 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000403 rs756860801 |
256 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746907973 CA1000402 CA341601509 |
257 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1000401 rs3748729 VAR_036780 |
258 | S>N | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1180983766 CA341601431 |
260 | T>R | No |
ClinGen gnomAD |
|
|
CA341601438 rs1236453035 |
260 | T>S | No |
ClinGen gnomAD |
|
|
CA1000400 rs144841705 |
262 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752447674 CA28802312 |
263 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000399 rs752447674 |
263 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766361860 CA1000396 |
265 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1000395 rs766361860 |
265 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1000397 rs182741932 |
265 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535801245 CA28802290 |
266 | M>T | No |
ClinGen Ensembl |
|
|
CA341601265 rs1362183704 |
268 | T>P | No |
ClinGen TOPMed |
|
|
CA28802275 rs748710253 COSM3801230 |
269 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1000392 rs768031613 |
270 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762435510 CA341601227 |
270 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762435510 CA1000391 |
270 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341601232 rs768031613 |
270 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341601180 COSM3399533 rs1311969991 |
273 | M>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA341601185 rs1570714941 |
273 | M>T | No |
ClinGen Ensembl |
|
|
CA341601149 rs1335811381 |
275 | E>G | No |
ClinGen gnomAD |
|
|
rs1392827113 CA341601140 |
276 | S>T | No |
ClinGen TOPMed |
|
|
rs1570714933 CA341601128 |
277 | T>P | No |
ClinGen Ensembl |
|
|
rs1404119673 CA341601094 |
279 | I>F | No |
ClinGen gnomAD |
|
|
rs1303588154 CA341601084 |
280 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1000389 rs769185254 |
281 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341601045 rs1378548735 |
282 | F>L | No |
ClinGen gnomAD |
|
|
rs759258364 CA1000388 |
283 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1000387 rs776484202 |
284 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs949829669 CA28802215 |
285 | E>K | No |
ClinGen Ensembl |
|
|
CA1000386 rs770503220 |
286 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341600969 rs1570714917 |
287 | V>M | No |
ClinGen Ensembl |
|
|
CA1000383 rs571676088 |
289 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1000382 COSM1560112 rs571676088 |
289 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1000384 rs371836114 |
289 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197816661 CA341600915 |
291 | V>A | No |
ClinGen TOPMed |
|
|
CA341600920 rs1481150754 |
291 | V>M | No |
ClinGen TOPMed |
|
|
CA341600901 rs1218221986 |
292 | V>A | No |
ClinGen gnomAD |
|
|
rs930515807 CA28802146 |
293 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs754042866 CA1000379 COSM1626304 |
294 | P>S | Variant assessed as Somatic; 0.0 impact. liver central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs780261576 CA1000378 |
297 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341600820 rs1341975927 |
298 | D>N | No |
ClinGen gnomAD |
|
|
rs1396815817 CA341600783 |
300 | F>L | No |
ClinGen TOPMed |
|
|
CA341600750 rs1452572349 |
302 | N>I | No |
ClinGen TOPMed |
|
|
rs1463297637 CA341600736 |
303 | I>F | No |
ClinGen TOPMed |
|
|
rs750470620 CA1000376 |
303 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000374 CA1000375 rs368340143 |
304 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1375646652 CA341600717 |
304 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 306 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752180528 CA1000373 |
306 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA341600679 rs1365061978 |
307 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs199955343 CA28802092 |
307 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA341600662 rs1161914230 |
308 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341600664 rs1161914230 |
308 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1305081057 CA341600671 |
308 | D>H | No |
ClinGen TOPMed |
|
|
CA341600666 rs1161914230 |
308 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341600649 rs1474061041 |
309 | I>F | No |
ClinGen gnomAD |
|
|
CA1000372 rs764542310 |
310 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs979180317 CA28802082 |
310 | I>V | No |
ClinGen TOPMed |
|
|
CA341600580 rs1230006549 |
314 | P>L | No |
ClinGen TOPMed |
|
|
rs1192990725 CA341600565 |
315 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1000370 rs775722259 |
318 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA341600529 rs775722259 |
318 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA28802051 rs974039455 |
319 | L>F | No |
ClinGen Ensembl |
|
|
rs1249846373 CA341600509 |
320 | I>N | No |
ClinGen TOPMed |
|
|
CA1000369 rs770577436 |
321 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs968278633 CA28802042 |
322 | E>G | No |
ClinGen TOPMed |
|
|
rs1488301986 CA341600468 |
323 | L>R | No |
ClinGen gnomAD |
|
|
CA341600452 rs1207987332 |
325 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341600446 rs1358461642 |
325 | Q>R | No |
ClinGen gnomAD |
|
|
CA1000368 rs760266671 |
326 | E>K | No |
ClinGen ExAC |
|
|
rs771519279 CA1000366 |
329 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341600384 rs1217828940 |
329 | P>T | No |
ClinGen gnomAD |
|
|
CA341600351 rs778875602 |
331 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778875602 CA1000364 |
331 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs768589259 CA1000363 |
332 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA28802009 rs779739847 |
338 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779739847 CA1000361 |
338 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341600187 rs148047410 |
339 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781330073 CA1000357 |
340 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA341600176 rs1172293014 |
340 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341600163 rs1245615632 |
341 | R>W | No |
ClinGen gnomAD |
|
|
rs757471815 CA1000356 |
342 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1267924409 CA341600115 |
343 | I>M | No |
ClinGen gnomAD |
|
|
rs370455162 CA1000355 COSM321100 |
344 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370709737 CA1000354 |
344 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370709737 CA28801961 |
344 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341600076 rs1327475817 |
346 | V>G | No |
ClinGen TOPMed |
|
|
CA341600064 rs1391698691 |
347 | R>T | No |
ClinGen TOPMed |
|
|
rs200678806 CA1000353 |
350 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs375331411 CA1000351 |
350 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1000352 rs375331411 |
350 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM168774 rs760343284 CA1000350 |
354 | L>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1000347 rs201622407 |
355 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1000348 COSM893687 rs201622407 |
355 | S>L | central_nervous_system endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs772803737 CA1000349 |
355 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM893685 rs768535829 CA1000345 |
356 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1000344 rs749237726 |
356 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA28801867 rs570945851 |
359 | K>N | No |
ClinGen Ensembl |
|
|
CA1000343 rs775327009 |
359 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201318977 CA1000342 |
361 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341599816 rs147012018 |
362 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA28801855 COSM1560113 rs190117605 |
365 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA341599778 rs190117605 |
365 | G>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs781216125 CA1000340 |
366 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1377713297 CA341599741 |
367 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778020579 CA341599707 |
370 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778020579 CA1000337 |
370 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1000336 rs187179669 |
370 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA341599701 rs1415146665 |
371 | S>P | No |
ClinGen TOPMed |
|
|
CA28801825 rs886190636 |
372 | M>V | No |
ClinGen Ensembl |
|
|
rs146624318 CA341599657 |
373 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146624318 CA1000331 RCV000970054 |
373 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755353258 CA1000332 |
373 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767085869 CA1000330 |
374 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA341599646 rs1287604099 |
374 | E>D | No |
ClinGen TOPMed |
|
|
CA341599633 rs1379830936 |
376 | G>R | No |
ClinGen gnomAD |
|
|
rs1439959184 CA341599612 |
377 | L>F | No |
ClinGen gnomAD |
|
|
rs1182950171 CA341599619 |
377 | L>S | No |
ClinGen gnomAD |
|
|
rs1447710123 CA341599606 |
378 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA341599610 rs1447710123 |
378 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1200114472 CA341599576 |
380 | F>L | No |
ClinGen gnomAD |
|
|
rs773832987 CA1000328 |
381 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA525627956 rs1437724697 |
384 | I>N | No |
ClinGen gnomAD |
|
|
rs763636135 CA1000327 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762947400 CA341599460 |
387 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs146859968 CA1000325 |
388 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs930506374 CA28801762 |
388 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs373170268 CA1000323 |
389 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776600827 CA1000322 |
392 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000319 rs777968194 |
394 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341599314 rs1310570083 |
396 | A>V | No |
ClinGen gnomAD |
|
|
rs758616318 CA1000318 |
397 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409579990 CA341599296 |
398 | V>M | No |
ClinGen TOPMed |
|
|
CA28801713 rs911218769 |
400 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1449749470 CA341599247 |
401 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779227938 CA1000316 |
402 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1338521949 CA341599238 |
402 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA341599236 rs1338521949 |
402 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1486766456 COSM335504 CA341599213 |
403 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs369495134 CA1000314 |
404 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 405 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140196737 CA1000313 |
406 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140196737 CA28801667 |
406 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1159665771 CA341599129 |
407 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000312 rs375264595 |
410 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341599060 rs1411344889 |
411 | G>S | No |
ClinGen gnomAD |
|
|
CA341599019 rs1375655393 |
413 | W>* | No |
ClinGen TOPMed |
|
|
rs1222096066 CA341598987 |
415 | A>V | No |
ClinGen TOPMed |
|
|
rs763584711 CA1000310 |
416 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1000309 rs762314249 |
417 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1000307 rs759540853 |
418 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000306 rs759540853 |
418 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143951564 CA1000305 |
419 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341598952 rs1221474234 |
419 | M>T | No |
ClinGen gnomAD |
|
|
CA341598958 rs1286835164 |
419 | M>V | No |
ClinGen gnomAD |
|
|
CA341598929 rs1229290255 |
421 | T>N | No |
ClinGen gnomAD |
|
|
CA1000304 rs770890363 |
421 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 421 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000302 rs773623020 |
422 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1000300 rs748105618 |
423 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341598878 rs1234210394 |
426 | D>H | No |
ClinGen TOPMed |
|
|
rs1468172545 CA341598848 |
428 | C>R | No |
ClinGen TOPMed |
|
|
rs1468172545 CA341598849 |
428 | C>S | No |
ClinGen TOPMed |
|
|
COSM1332604 CA1000297 rs138028628 |
429 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138028628 CA341598837 |
429 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000295 rs200653853 |
430 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750800748 CA1000294 |
430 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA341598826 rs1262503421 |
431 | T>I | No |
ClinGen gnomAD |
|
|
CA341598820 rs1414222308 |
432 | P>L | No |
ClinGen TOPMed |
|
|
rs1190731953 CA341598823 |
432 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1000292 rs144405106 |
433 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000293 rs144405106 |
433 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1256559277 | 435 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 435 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764850150 CA1000290 |
435 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1000289 rs371713088 |
436 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA28801529 rs970290186 |
436 | I>V | No |
ClinGen Ensembl |
|
|
CA1000288 rs753891943 |
437 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM893683 CA341598781 rs1364910635 |
439 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs556353083 CA28801520 |
440 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA28801515 rs923569725 |
441 | C>* | No |
ClinGen TOPMed |
|
| TCGA novel | 441 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000286 rs760485213 |
444 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA28801509 rs367700529 |
444 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA341598726 rs1373895944 |
449 | I>N | No |
ClinGen gnomAD |
|
|
CA1000284 rs772140632 |
449 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA28801491 rs1023894133 |
450 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 450 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774267324 CA1000282 |
451 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1194733328 CA341598708 |
452 | P>L | No |
ClinGen gnomAD |
|
|
CA1000281 rs768851313 COSM1667798 |
452 | P>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1469396348 CA341598704 |
453 | V>E | No |
ClinGen TOPMed |
|
|
rs749785520 CA1000280 |
454 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1156891085 CA341598688 |
456 | I>F | No |
ClinGen TOPMed |
|
|
CA28801456 rs886165385 |
457 | V>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 458 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28801450 rs199695476 |
460 | F>L | No |
ClinGen 1000Genomes |
|
|
rs770292045 CA1000278 |
460 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1251481075 CA341598651 |
461 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA341598643 rs1168787084 |
462 | Y>* | No |
ClinGen TOPMed |
|
|
CA341598638 rs1305078585 |
463 | F>C | No |
ClinGen gnomAD |
|
|
rs375091439 CA1000277 |
463 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341598641 rs375091439 |
463 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376137233 CA341598633 |
464 | Y>D | No |
ClinGen gnomAD |
|
|
CA1000274 rs148102817 |
466 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000275 rs757965548 |
466 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000273 rs778282986 |
467 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs754592081 CA1000272 |
468 | T>S | No |
ClinGen ExAC |
|
|
rs753410429 CA1000271 |
471 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA28801369 rs376235454 |
472 | E>Q | No |
ClinGen Ensembl |
|
|
rs756148052 CA1000269 |
474 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750190808 CA1000268 |
476 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs554087040 CA28801359 |
476 | I>M | No |
ClinGen 1000Genomes |
|
|
CA1000267 rs767389171 |
476 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs774696992 CA1000265 |
478 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs761940482 CA1000266 |
478 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA341598525 rs1557706253 |
480 | I>T | No |
ClinGen Ensembl |
|
|
rs1211028104 CA341598522 |
481 | E>K | No |
ClinGen gnomAD |
|
|
CA1000262 rs148552792 |
482 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341598513 rs1283736764 |
482 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs775578112 CA1000261 |
483 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775578112 CA341598505 |
483 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375777896 CA28801322 |
483 | I>V | No |
ClinGen ESP gnomAD |
|
|
CA341598491 rs1337177579 |
485 | N>K | No |
ClinGen TOPMed |
|
|
rs770239090 CA1000260 |
485 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000258 rs201074852 |
488 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341598463 rs552769559 |
490 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs552769559 CA28801276 |
490 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1358720517 CA341598455 |
491 | M>T | No |
ClinGen gnomAD |
|
|
CA341598440 rs1160909846 |
493 | S>T | No |
ClinGen gnomAD |
|
|
CA28801247 rs901347784 |
497 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1000255 rs778569816 |
499 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1000254 rs200120998 |
500 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1000253 rs748762438 |
501 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA28801207 rs56171965 |
501 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000251 rs756095164 |
501 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56171965 CA1000252 |
501 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000250 rs750444854 COSM674400 |
503 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA341598376 rs1283268034 |
504 | C>S | No |
ClinGen gnomAD |
|
|
CA1000249 rs767205724 |
505 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA341598364 rs767205724 |
505 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1000248 rs757022766 |
506 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751319396 CA1000247 |
507 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA341598358 rs1319489597 |
507 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1170267064 CA341598351 |
508 | K>Q | No |
ClinGen TOPMed |
|
|
CA1000246 rs535534497 |
510 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q16322
3 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. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| delayed rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by a delayed rectifying voltage-gated channel. A delayed rectifying current-voltage relation is one where channel activation kinetics are time-dependent, and inactivation is slow. |
| intracellular cyclic nucleotide activated cation channel activity | Enables the transmembrane transfer of a cation by a channel that opens when intracellular cyclic nucleotide has been bound by the channel complex or one of its constituent parts. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05037 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Bos taurus (Bovine) | PR |
| Q7T199 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Gallus gallus (Chicken) | PR |
| P22001 | KCNA3 | Potassium voltage-gated channel subfamily A member 3 | Homo sapiens (Human) | PR |
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | Homo sapiens (Human) | PR |
| Q96RP8 | KCNA7 | Potassium voltage-gated channel subfamily A member 7 | Homo sapiens (Human) | PR |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q14721 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Homo sapiens (Human) | PR |
| Q8TDN2 | KCNV2 | Potassium voltage-gated channel subfamily V member 2 | Homo sapiens (Human) | PR |
| Q92953 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Homo sapiens (Human) | PR |
| P16389 | KCNA2 | Potassium voltage-gated channel subfamily A member 2 | Homo sapiens (Human) | PR |
| Q9UK17 | KCND3 | Potassium voltage-gated channel subfamily D member 3 | Homo sapiens (Human) | PR |
| Q03721 | KCNC4 | Potassium voltage-gated channel subfamily C member 4 | Homo sapiens (Human) | PR |
| Q61423 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Mus musculus (Mouse) | PR |
| P16390 | Kcna3 | Potassium voltage-gated channel subfamily A member 3 | Mus musculus (Mouse) | PR |
| P16388 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Mus musculus (Mouse) | PR |
| Q17ST2 | Kcna7 | Potassium voltage-gated channel subfamily A member 7 | Mus musculus (Mouse) | PR |
| P15385 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Rattus norvegicus (Rat) | PR |
| P15384 | Kcna3 | Potassium voltage-gated channel subfamily A member 3 | Rattus norvegicus (Rat) | PR |
| P10499 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Rattus norvegicus (Rat) | PR |
| P63142 | Kcna2 | Potassium voltage-gated channel subfamily A member 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDVCGWKEME | VALVNFDNSD | EIQEEPGYAT | DFDSTSPKGR | PGGSSFSNGK | ILISESTNHE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TAFSKLPGDY | ADPPGPEPVV | LNEGNQRVII | NIAGLRFETQ | LRTLSQFPET | LLGDREKRMQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FFDSMRNEYF | FDRNRPSFDG | ILYYYQSGGK | IRRPANVPID | IFADEISFYE | LGSEAMDQFR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDEGFIKDPE | TLLPTNDIHR | QFWLLFEYPE | SSSAARAVAV | VSVLVVVISI | TIFCLETLPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FREDRELKVV | RDPNLNMSKT | VLSQTMFTDP | FFMVESTCIV | WFTFELVLRF | VVCPSKTDFF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RNIMNIIDII | SIIPYFATLI | TELVQETEPS | AQQNMSLAIL | RIIRLVRVFR | IFKLSRHSKG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQILGQTLKA | SMRELGLLIF | FLFIGVILFS | SAVYFAEVDE | PESHFSSIPD | GFWWAVVTMT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TVGYGDMCPT | TPGGKIVGTL | CAIAGVLTIA | LPVPVIVSNF | NYFYHRETEN | EEKQNIPGEI |
| 490 | 500 | 510 | |||
| ERILNSVGSR | MGSTDSLNKT | NGGCSTEKSR | K |