P22459
PR
Gene name |
KCNA4 (KCNA4L) |
Protein name |
Potassium voltage-gated channel subfamily A member 4 |
Names |
HPCN2, Voltage-gated K(+) channel HuKII, Voltage-gated potassium channel HBK4, Voltage-gated potassium channel HK1, Voltage-gated potassium channel subunit Kv1.4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3739 |
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 P22459
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P22459-F1 | Predicted | AlphaFoldDB |
466 variants for P22459
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000736033 VAR_081837 rs779101828 CA5930658 |
89 | R>Q | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum MCIDDS; unknown pathological significance; mildly decreased function in potassium transmembrane transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
COSM3736038 CA5930433 rs200225575 RCV001328934 |
608 | K>N | Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 2 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764691618 CA5930707 |
3 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380083680 rs1437512834 |
4 | A>E | No |
ClinGen TOPMed |
|
|
rs761300035 CA5930706 |
4 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1221863870 CA380083650 |
8 | A>V | No |
ClinGen gnomAD |
|
|
CA5930704 rs771648510 |
13 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA380083620 rs771648510 |
13 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA380083617 rs1197588494 |
13 | C>Y | No |
ClinGen gnomAD |
|
|
CA380083614 rs1327992447 |
14 | N>H | No |
ClinGen gnomAD |
|
|
CA380083607 rs1398311354 |
14 | N>K | No |
ClinGen gnomAD |
|
|
CA380083610 rs1410292680 |
14 | N>S | No |
ClinGen gnomAD |
|
|
CA5930703 rs745396358 |
15 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773947520 CA5930702 |
16 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1468911981 CA380083595 |
16 | H>R | No |
ClinGen gnomAD |
|
|
CA5930701 rs770586698 |
17 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 18 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777613450 CA5930699 |
18 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5930700 rs749018764 |
18 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA380083562 rs1280008064 |
21 | Y>C | No |
ClinGen TOPMed |
|
|
CA380083550 rs1438778471 |
23 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380083542 rs1340997594 |
24 | Q>R | No |
ClinGen Ensembl |
|
|
CA5930696 rs758454984 |
26 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5930695 rs758454984 |
26 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202016357 CA380083531 |
26 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs889562160 CA220110352 |
27 | A>P | No |
ClinGen Ensembl |
|
|
CA380083523 rs1225405166 |
28 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1371144415 CA380083516 |
29 | E>G | No |
ClinGen gnomAD |
|
|
CA5930694 rs750544378 |
30 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750544378 CA220110351 |
30 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380083510 rs1323104794 |
30 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1337324625 CA380083487 |
34 | A>T | No |
ClinGen gnomAD |
|
|
CA220110350 rs528479973 |
34 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1590491836 CA380083479 |
35 | H>P | No |
ClinGen Ensembl |
|
|
CA380083473 rs1406335278 |
36 | S>P | No |
ClinGen gnomAD |
|
|
rs1590491825 CA380083468 |
37 | R>G | No |
ClinGen Ensembl |
|
|
CA380083461 rs1398485183 |
38 | A>T | No |
ClinGen gnomAD |
|
|
rs1485100634 CA380083450 |
39 | A>V | No |
ClinGen TOPMed |
|
|
rs1264516220 CA380083443 |
41 | A>T | No |
ClinGen TOPMed |
|
|
CA380083437 rs1219757636 |
42 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs754238812 CA5930691 |
45 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5930690 COSM3415795 rs764565549 |
46 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA380083407 rs1461078592 |
47 | A>S | No |
ClinGen gnomAD |
|
|
CA5930688 rs776021862 |
48 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767936033 CA5930687 |
50 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1224276495 CA380083383 |
51 | V>A | No |
ClinGen gnomAD |
|
|
COSM1127799 CA380083379 rs1352740443 |
52 | E>K | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs773859328 CA5930685 |
53 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA380083364 rs1383121133 |
54 | S>T | No |
ClinGen gnomAD |
|
|
rs375529159 CA220110348 |
55 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs375529159 CA380083359 |
55 | G>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA380083355 rs1344100601 |
56 | G>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs772969969 CA5930682 |
56 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs781126296 CA5930679 |
58 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769670950 CA5930681 |
58 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs781126296 CA5930680 |
58 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380083332 rs1444435601 |
60 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA380083330 rs1444435601 |
60 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1183830644 CA380083324 COSM39772 |
61 | S>F | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1590491678 CA380083328 |
61 | S>P | No |
ClinGen Ensembl |
|
|
rs1183830644 CA380083326 |
61 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1590491664 CA380083321 |
62 | H>P | No |
ClinGen Ensembl |
|
|
rs779189820 CA5930676 |
62 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1590491663 CA380083313 |
63 | H>P | No |
ClinGen Ensembl |
|
|
CA380083306 rs1489257209 |
64 | H>Y | No |
ClinGen gnomAD |
|
|
CA5930674 rs754150629 |
65 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370761851 CA5930675 |
65 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359908808 CA380083290 |
66 | Q>R | No |
ClinGen gnomAD |
|
|
CA380083281 rs1186457093 |
67 | S>L | No |
ClinGen TOPMed |
|
|
CA5930672 rs756447343 COSM271329 |
68 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5930671 rs756447343 |
68 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270318199 CA380083276 |
69 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1473161691 COSM1507638 CA380083273 |
69 | G>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5930670 rs753020949 |
70 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406027339 CA380083270 |
70 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA380083262 rs1363123196 |
71 | C>Y | No |
ClinGen gnomAD |
|
|
CA380083256 rs1424517118 |
72 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1360967405 CA380083249 |
73 | S>A | No |
ClinGen TOPMed |
|
|
CA380083247 rs1433951598 |
73 | S>C | No |
ClinGen TOPMed |
|
|
rs760105794 CA5930668 |
74 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427017553 CA380083238 |
75 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5930667 rs202168576 |
76 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380083214 rs1187223187 |
78 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 79 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478860153 CA380083206 |
79 | S>N | No |
ClinGen gnomAD |
|
|
COSM1492546 CA380083199 rs1221664561 |
80 | R>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs765923739 CA5930666 |
80 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1490493022 CA380083195 |
81 | G>C | No |
ClinGen gnomAD |
|
|
CA380083194 rs1267055958 |
81 | G>D | No |
ClinGen gnomAD |
|
|
rs772880533 CA380083183 |
83 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769344328 CA5930663 COSM542280 |
83 | R>Q | Variant assessed as Somatic; 4.737e-05 impact. lung oesophagus central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5930664 rs772880533 |
83 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 85 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA220110345 rs970020205 |
86 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs540569438 CA5930661 |
86 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380083165 rs1343108601 |
86 | R>W | No |
ClinGen gnomAD |
|
|
CA380083159 rs1295699306 |
87 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1353400 rs1295699306 CA380083158 |
87 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs779101828 CA5930659 |
89 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768699041 COSM275635 CA5930660 |
89 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA380083137 rs1564936224 |
91 | E>A | No |
ClinGen Ensembl |
|
|
CA380083139 rs1171415755 |
91 | E>Q | No |
ClinGen gnomAD |
|
|
rs1427373577 CA380083120 |
93 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 94 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM270705 CA5930656 rs749396985 |
95 | A>T | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA380083104 rs1480752127 |
95 | A>V | No |
ClinGen gnomAD |
|
|
CA5930654 rs756298430 |
96 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5930655 rs201817148 |
96 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753104975 COSM926231 CA5930653 |
97 | Y>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1317338 rs755456987 CA5930651 |
98 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5930652 rs781470228 |
98 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440742852 CA380083069 |
101 | S>G | No |
ClinGen gnomAD |
|
|
CA5930650 rs752102218 |
101 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380083051 rs1327542180 |
103 | P>H | No |
ClinGen TOPMed |
|
|
rs766903797 CA5930649 |
106 | S>F | No |
ClinGen ExAC |
|
|
rs749906266 CA5930647 |
107 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs764937951 CA5930646 |
109 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1564936199 CA380083007 |
110 | P>S | No |
ClinGen Ensembl |
|
|
rs1048318004 CA220110342 |
111 | S>R | No |
ClinGen TOPMed |
|
|
CA380082983 rs1331598956 |
114 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 115 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932599335 CA220110340 |
117 | I>V | No |
ClinGen TOPMed |
|
|
CA5930643 rs768609099 COSM3397630 |
119 | R>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1231491373 CA380082937 |
120 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 120 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760575043 CA5930642 |
121 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs769646668 CA220110339 |
122 | S>N | No |
ClinGen gnomAD |
|
|
rs1302445674 CA380082926 |
122 | S>R | No |
ClinGen Ensembl |
|
|
CA380082909 rs775516132 |
124 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA380082889 rs1177687500 |
127 | D>A | No |
ClinGen gnomAD |
|
|
CA220110338 rs1019189948 |
127 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 127 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380082871 rs772145513 |
129 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA380082877 rs1379395121 |
129 | E>K | No |
ClinGen gnomAD |
|
|
rs573046964 CA5930639 |
130 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380082861 rs1277025748 |
131 | E>Q | No |
ClinGen TOPMed |
|
|
rs375595700 CA5930636 |
132 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5930637 rs375595700 |
132 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380082836 rs1242103622 |
134 | E>G | No |
ClinGen gnomAD |
|
|
rs1252607751 CA380082840 |
134 | E>K | No |
ClinGen TOPMed |
|
| rs752488769 | 135 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781591836 CA5930633 |
136 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5930631 rs377693677 |
137 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5930630 rs780472651 |
137 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1564936126 COSM1321715 CA380082809 |
138 | G>E | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA220110337 rs200269029 |
138 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA380082802 rs1420756301 |
139 | R>M | No |
ClinGen TOPMed |
|
|
CA220110336 rs1028507320 |
139 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 141 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA220110335 rs913995748 |
141 | Y>H | No |
ClinGen TOPMed |
|
|
rs575017629 CA5930627 |
142 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1210166938 CA380082785 |
142 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1384742005 CA380082766 |
144 | E>G | No |
ClinGen TOPMed |
|
|
CA5930626 rs749934053 |
145 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs555288629 CA220110334 |
146 | D>N | No |
ClinGen gnomAD |
|
|
rs1404445453 CA380082742 |
147 | H>Q | No |
ClinGen gnomAD |
|
|
CA380082744 rs1396765513 |
147 | H>R | No |
ClinGen gnomAD |
|
|
CA380082737 rs1590491181 |
148 | G>D | No |
ClinGen Ensembl |
|
|
rs1287183994 CA380082739 |
148 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764700389 CA5930625 |
149 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276842018 CA380082734 |
149 | D>N | No |
ClinGen TOPMed |
|
|
CA220110333 rs756899989 |
150 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380082723 rs1364288902 |
150 | E>G | No |
ClinGen gnomAD |
|
|
CA5930623 rs753388893 |
151 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380082720 COSM687602 rs753388893 |
151 | C>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs41282920 CA220110332 |
151 | C>Y | No |
ClinGen Ensembl |
|
|
rs373441003 CA5930621 |
154 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373441003 CA5930622 |
154 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767562204 CA5930619 |
155 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767562204 CA380082695 |
155 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA220110331 rs980756879 |
156 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773323313 CA5930617 |
157 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769805406 CA5930616 |
160 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs748292699 CA5930615 |
162 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs768881096 CA5930613 |
163 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs776785465 CA5930614 |
163 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 164 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930612 rs747368709 |
165 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5930611 rs780454437 |
167 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA380082622 rs1299983987 |
167 | S>N | No |
ClinGen gnomAD |
|
|
CA5930610 rs535663100 |
170 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM428889 rs1364807757 CA380082602 |
170 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs779502105 CA380082598 |
171 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA5930609 rs746400861 |
171 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs779502105 CA5930608 |
171 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA5930607 rs756670078 |
172 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs770867329 CA220110330 |
172 | S>N | No |
ClinGen Ensembl |
|
|
CA380082578 rs1456001670 |
174 | C>G | No |
ClinGen TOPMed |
|
|
CA380082571 rs1564936054 |
175 | C>R | No |
ClinGen Ensembl |
|
|
CA5930606 rs753397567 |
177 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1590491007 CA380082555 |
177 | R>S | No |
ClinGen Ensembl |
|
|
rs934479381 CA220110329 |
180 | I>M | No |
ClinGen gnomAD |
|
|
CA5930605 rs376250615 |
186 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1210786614 CA380082498 |
186 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380082472 rs1249860626 |
190 | Q>E | No |
ClinGen gnomAD |
|
|
rs373727944 CA220110327 |
191 | M>I | No |
ClinGen ESP |
|
|
CA380082457 rs369526359 |
192 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369526359 CA5930603 |
192 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5930602 rs767472239 |
196 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380082429 rs767472239 |
196 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324016974 CA380082394 |
201 | L>S | No |
ClinGen gnomAD |
|
|
CA5930599 rs766363325 |
203 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 209 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 210 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761742213 CA5930598 |
210 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs761742213 CA380082333 |
210 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196629376 CA380082303 |
214 | P>S | No |
ClinGen gnomAD |
|
|
CA5930596 rs768852661 |
216 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380082289 COSM1353398 rs1268762688 |
216 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs768852661 CA380082292 |
216 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 218 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754892524 | 221 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775798928 CA5930593 COSM300151 |
225 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5930594 rs775798928 |
225 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380082185 rs1318857719 |
230 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746264739 CA380082172 |
232 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1275388823 CA380082150 |
235 | Y>C | No |
ClinGen gnomAD |
|
|
CA380082149 rs1275388823 |
235 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757783890 CA5930589 |
238 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5930588 rs748807103 |
240 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5930587 rs777488025 |
240 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5930586 rs755809318 |
243 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371584770 CA220110323 |
246 | N>S | No |
ClinGen ESP |
|
|
CA220110322 rs985289618 |
249 | F>Y | No |
ClinGen gnomAD |
|
|
rs780930303 CA5930584 |
250 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA380082052 rs1458417526 |
251 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380081991 rs746527867 |
259 | Y>C | No |
ClinGen gnomAD |
|
|
rs746527867 CA220110321 |
259 | Y>F | No |
ClinGen gnomAD |
|
|
CA380081979 rs766163722 |
261 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM123841 CA380081966 rs1420770449 |
263 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1279340897 CA380081953 |
264 | E>V | No |
ClinGen gnomAD |
|
|
rs764196528 CA5930578 |
270 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753892596 COSM1475360 CA5930579 |
270 | R>W | Variant assessed as Somatic; 0.0 impact. pancreas breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs45509498 CA380081899 |
272 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380081882 rs1335349833 |
275 | F>L | No |
ClinGen TOPMed |
|
|
rs919332620 CA220110320 |
277 | R>K | No |
ClinGen Ensembl |
|
|
rs1238289926 CA380081864 |
277 | R>S | No |
ClinGen TOPMed |
|
|
rs1451387039 CA380081857 |
278 | E>D | No |
ClinGen gnomAD |
|
|
CA380081862 rs1564935941 |
278 | E>Q | No |
ClinGen Ensembl |
|
|
rs368811039 CA5930576 |
279 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335614804 CA380081851 |
279 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA220110319 rs1003894683 |
280 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
TCGA novel CA5930572 rs376461903 |
286 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA5930573 rs774842094 COSM1353396 |
286 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774842094 CA380081808 |
286 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 288 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA220110318 rs972248755 |
291 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 291 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 293 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564935913 CA380081749 |
293 | I>M | No |
ClinGen Ensembl |
|
| TCGA novel | 293 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930566 rs754664152 |
304 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs932316138 CA220110317 |
306 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1355602012 CA380081646 |
308 | G>A | No |
ClinGen gnomAD |
|
|
rs1355602012 CA380081645 |
308 | G>V | No |
ClinGen gnomAD |
|
|
rs1379425245 CA380081639 |
309 | I>M | No |
ClinGen gnomAD |
|
|
CA5930563 rs758299367 |
309 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 310 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930559 rs372809586 |
314 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1176398747 CA380081579 |
319 | I>T | No |
ClinGen TOPMed |
|
|
CA5930557 rs368627706 |
323 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 325 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380081541 rs1440682980 |
325 | C>G | No |
ClinGen TOPMed |
|
| TCGA novel | 327 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380081517 rs1236564084 |
328 | T>I | No |
ClinGen gnomAD |
|
|
CA380081507 rs1405037789 |
330 | P>S | No |
ClinGen gnomAD |
|
|
rs771370168 CA5930555 |
331 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs374525769 CA5930553 |
334 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5930551 COSM184930 rs747595084 |
335 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5930550 rs776273189 |
337 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs768170996 CA5930549 |
339 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779602554 CA5930547 |
340 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA380081410 rs1564935851 |
344 | A>V | No |
ClinGen Ensembl |
|
|
CA380081408 rs1291610243 |
345 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs867298315 CA220110315 |
346 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380081387 rs1278277792 |
348 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs757248722 CA380081377 |
350 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1350779104 CA380081366 |
351 | L>F | No |
ClinGen gnomAD |
|
|
rs1300053723 CA380081368 |
351 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA380081363 rs1167185649 |
352 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564935824 CA380081339 |
355 | S>L | No |
ClinGen Ensembl |
|
|
rs766733592 CA5930538 |
357 | P>L | No |
ClinGen ExAC |
|
|
CA220110314 rs12276475 |
357 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs12276475 CA5930539 |
357 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380081323 rs1478789217 |
358 | H>R | No |
ClinGen gnomAD |
|
|
rs1256003243 CA380081319 |
359 | L>M | No |
ClinGen TOPMed |
|
|
rs1190505301 CA380081311 |
360 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA380081290 rs1202092642 |
363 | G>E | No |
ClinGen gnomAD |
|
|
rs191521585 CA5930537 |
363 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5930536 rs773718910 |
364 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5930535 rs765835735 |
365 | T>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380081256 rs1320743511 |
368 | N>S | No |
ClinGen gnomAD |
|
|
CA380081239 rs1368755762 |
370 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA380081240 rs1368755762 |
370 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746521549 CA5930531 |
371 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA5930529 rs758000088 |
374 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380081194 rs1175276309 |
377 | V>A | No |
ClinGen gnomAD |
|
|
rs778734387 CA5930527 |
377 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 379 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172960164 CA380081143 |
384 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 388 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930525 rs375741098 |
388 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1457075116 CA380081113 |
389 | R>S | No |
ClinGen gnomAD |
|
|
CA220110309 rs894376667 |
390 | C>S | No |
ClinGen TOPMed |
|
|
CA380081105 rs1238437694 |
390 | C>Y | No |
ClinGen gnomAD |
|
|
rs918183932 CA220110308 |
393 | C>R | No |
ClinGen TOPMed |
|
|
CA5930524 rs777607530 |
394 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs992782052 CA220110307 |
395 | S>N | No |
ClinGen TOPMed |
|
|
CA220110306 CA5930522 rs199748253 |
395 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380081061 rs1233243460 |
397 | A>T | No |
ClinGen gnomAD |
|
|
CA380081034 rs1216214070 |
400 | F>L | No |
ClinGen TOPMed |
|
|
CA380081014 rs1259460400 |
403 | I>T | No |
ClinGen TOPMed |
|
|
rs750806119 CA5930519 |
404 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA380080986 rs1238389136 |
407 | I>V | No |
ClinGen gnomAD |
|
|
CA5930518 rs370093405 |
409 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380080955 rs1422863541 |
411 | S>F | No |
ClinGen gnomAD |
|
|
rs1449191324 CA380080950 |
412 | I>T | No |
ClinGen gnomAD |
|
|
CA380080929 rs1302325164 |
415 | Y>F | No |
ClinGen gnomAD |
|
|
CA380080910 rs1263990356 |
418 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA380080884 rs1156793702 |
422 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 423 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438875069 CA380080875 |
424 | A>S | No |
ClinGen gnomAD |
|
|
CA5930513 rs200479133 |
424 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1180122757 CA380080861 |
426 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1180122757 CA380080862 |
426 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA380080848 rs1195873299 |
427 | Q>H | No |
ClinGen TOPMed |
|
|
rs1162963382 CA380080843 |
428 | G>E | No |
ClinGen TOPMed |
|
|
rs1254944226 CA380080846 |
428 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1162963382 CA380080841 |
428 | G>V | No |
ClinGen TOPMed |
|
|
rs1254944226 CA380080844 |
428 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs756597763 CA5930510 |
429 | G>D | No |
ClinGen ExAC gnomAD |
|
| rs1258313537 | 429 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215017248 CA380080835 |
430 | G>S | No |
ClinGen gnomAD |
|
|
CA220110304 rs199975003 |
431 | N>S | No |
ClinGen TOPMed |
|
|
CA380080817 rs1564935723 |
432 | G>D | No |
ClinGen Ensembl |
|
|
CA380080822 rs1353443983 |
432 | G>S | No |
ClinGen gnomAD |
|
|
rs369812533 CA220110303 |
433 | Q>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 438 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930509 rs750787880 |
438 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs770674586 CA5930508 |
441 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs777712241 CA5930506 |
442 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5930505 rs769624568 |
443 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA220110301 rs530389425 |
447 | R>H | No |
ClinGen Ensembl |
|
|
CA380080705 rs1262326478 |
449 | V>G | No |
ClinGen gnomAD |
|
|
CA380080702 rs1422415825 |
450 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380080649 rs1192208965 |
458 | S>A | No |
ClinGen gnomAD |
|
|
rs1222745745 CA380080593 |
466 | I>T | No |
ClinGen TOPMed |
|
|
rs764653468 CA5930497 |
468 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 468 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590489659 CA380080577 |
469 | H>L | No |
ClinGen Ensembl |
|
| TCGA novel | 469 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930496 rs761141275 |
469 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1265111172 CA380080578 |
469 | H>Y | No |
ClinGen gnomAD |
|
|
rs1276376774 CA380080559 |
472 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 474 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930494 rs767940273 |
475 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 476 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203288776 CA380080530 |
476 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748087093 CA5930487 |
487 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5930488 rs769759686 |
487 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380080444 rs1416184221 |
489 | V>A | No |
ClinGen TOPMed |
|
|
rs574437213 CA5930485 |
491 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5930481 rs373415782 |
501 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757484309 CA5930482 |
501 | A>T | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5930480 rs373415782 |
501 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5930477 rs534883274 |
503 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1280040583 CA380080346 |
504 | P>H | No |
ClinGen gnomAD |
|
|
rs1299951400 CA380080347 |
504 | P>S | No |
ClinGen TOPMed |
|
|
rs1361165616 CA380080341 |
505 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 507 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330374058 CA380080282 |
513 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 513 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 516 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 524 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 524 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219281109 CA380080165 |
530 | M>L | No |
ClinGen gnomAD |
|
|
rs758993755 CA5930476 |
533 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs377312973 CA5930473 |
535 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5930474 COSM1604465 rs201134414 |
535 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1170149460 CA380080124 |
536 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1564935598 CA380080118 |
537 | G>A | No |
ClinGen Ensembl |
|
| TCGA novel | 539 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 541 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930470 rs761722050 |
541 | G>R | No |
ClinGen ExAC |
|
|
COSM926221 rs1453579867 CA380080067 |
545 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs745934483 CA5930467 |
546 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5930468 rs768719103 |
546 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5930465 rs771159881 |
547 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 554 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 565 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781616816 CA5930460 COSM1353391 |
566 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1331603271 CA380079904 |
570 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5930459 rs755546360 |
571 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 572 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 574 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 576 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751056487 CA5930458 |
577 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758039379 CA5930456 |
578 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs376821611 CA5930454 |
580 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 581 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5930450 rs760740333 |
582 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs764106894 CA5930451 |
582 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5930449 rs774456258 |
583 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA380079809 rs1160279214 |
584 | V>F | No |
ClinGen TOPMed |
|
|
rs1351245157 CA380079804 |
585 | S>G | No |
ClinGen gnomAD |
|
|
CA380079800 rs1413863050 |
585 | S>N | No |
ClinGen TOPMed |
|
|
CA5930447 COSM1604464 rs773252857 |
586 | C>F | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5930446 rs773252857 |
586 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360392206 CA380079786 |
587 | P>L | No |
ClinGen TOPMed |
|
|
rs770011779 CA5930445 |
590 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548595217 CA5930443 |
591 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380079753 rs1340496141 |
593 | L>M | No |
ClinGen gnomAD |
|
|
rs1036448697 CA220110296 |
595 | K>N | No |
ClinGen gnomAD |
|
|
CA380079729 rs1437121388 |
596 | K>R | No |
ClinGen gnomAD |
|
|
CA220110295 rs866978411 |
598 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371670338 CA5930441 COSM261493 |
598 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780643988 CA380079713 |
599 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780643988 CA5930440 |
599 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5930439 COSM926219 rs757787586 |
602 | S>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5930438 rs749952273 |
603 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5930435 rs764792446 |
605 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757024934 CA5930434 |
607 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA220110292 rs915510691 |
608 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1217026282 CA380079629 |
613 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 617 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764018906 CA5930432 |
617 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA380079593 rs1434779787 |
617 | G>V | No |
ClinGen gnomAD |
|
|
rs760574927 CA5930431 |
620 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs373949002 CA5930429 |
622 | L>R | No |
ClinGen ESP ExAC |
|
|
CA5930428 rs762878567 |
625 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA220110291 rs200767735 |
625 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 625 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170755652 CA380079536 |
626 | E>A | No |
ClinGen TOPMed |
|
| rs760802590 | 627 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380079532 rs957063987 |
627 | E>K | No |
ClinGen gnomAD |
|
|
CA220110290 rs957063987 |
627 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380079516 rs773413152 |
629 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773413152 COSM3666259 CA5930426 |
629 | C>R | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5930425 rs200498416 |
630 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5930423 rs776951413 |
631 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762072287 COSM1289542 CA5930424 |
631 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 634 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380079485 rs1167160961 |
634 | D>N | No |
ClinGen gnomAD |
|
|
rs1167160961 CA380079483 |
634 | D>Y | No |
ClinGen gnomAD |
|
|
CA5930422 rs768971168 |
635 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs201531731 CA5930421 |
640 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763018624 CA220110289 |
643 | C>S | No |
ClinGen gnomAD |
|
|
rs1268476403 CA380079405 |
644 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 646 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023989215 CA220110288 |
646 | A>V | No |
ClinGen gnomAD |
|
|
CA380079377 rs1274551329 |
649 | V>M | No |
ClinGen gnomAD |
|
|
CA380079350 rs1216291541 |
652 | D>E | No |
ClinGen gnomAD |
1 associated diseases with P22459
[MIM: 618284]: Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum (MCIDDS)
An autosomal recessive syndrome characterized by cognitive impairment, attention deficit hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads. {ECO:0000269|PubMed:27582084}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive syndrome characterized by cognitive impairment, attention deficit hyperactivity disorder, microcephaly, growth retardation, congenital cataract, and dystonia. Brain MRI shows unusual thinning of the lentiform nucleus, predominantly involving the putamen, and swelling in the caudate heads. {ECO:0000269|PubMed:27582084}. Note=The disease may be caused by variants affecting the gene represented in this entry.
4 regional properties for P22459
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BTB/POZ domain | 176 - 276 | IPR000210 |
| domain | Potassium channel tetramerisation-type BTB domain | 178 - 266 | IPR003131 |
| domain | Ion transport domain | 310 - 570 | IPR005821 |
| domain | Potassium channel, voltage dependent, Kv1.4, tandem inactivation domain | 1 - 73 | IPR012897 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| axon initial segment | Portion of the axon proximal to the neuronal cell body, at the level of the axon hillock. The action potentials that propagate along the axon are generated at the level of this initial segment. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| 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. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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. |
| potassium ion binding | Binding to a potassium ion (K+). |
| 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 |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | Homo sapiens (Human) | PR |
| Q16322 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | 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 |
| 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 |
| Q61423 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Mus musculus (Mouse) | 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 |
| P15385 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEVAMVSAES | SGCNSHMPYG | YAAQARARER | ERLAHSRAAA | AAAVAAATAA | VEGSGGSGGG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHHHHQSRGA | CTSHDPQSSR | GSRRRRRQRS | EKKKAHYRQS | SFPHCSDLMP | SGSEEKILRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LSEEEEDEEE | EEEEEEEGRF | YYSEDDHGDE | CSYTDLLPQD | EGGGGYSSVR | YSDCCERVVI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NVSGLRFETQ | MKTLAQFPET | LLGDPEKRTQ | YFDPLRNEYF | FDRNRPSFDA | ILYYYQSGGR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LKRPVNVPFD | IFTEEVKFYQ | LGEEALLKFR | EDEGFVREEE | DRALPENEFK | KQIWLLFEYP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ESSSPARGIA | IVSVLVILIS | IVIFCLETLP | EFRDDRDLVM | ALSAGGHGGL | LNDTSAPHLE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NSGHTIFNDP | FFIVETVCIV | WFSFEFVVRC | FACPSQALFF | KNIMNIIDIV | SILPYFITLG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TDLAQQQGGG | NGQQQQAMSF | AILRIIRLVR | VFRIFKLSRH | SKGLQILGHT | LRASMRELGL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LIFFLFIGVI | LFSSAVYFAE | ADEPTTHFQS | IPDAFWWAVV | TMTTVGYGDM | KPITVGGKIV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GSLCAIAGVL | TIALPVPVIV | SNFNYFYHRE | TENEEQTQLT | QNAVSCPYLP | SNLLKKFRSS |
| 610 | 620 | 630 | 640 | 650 | |
| TSSSLGDKSE | YLEMEEGVKE | SLCAKEEKCQ | GKGDDSETDK | NNCSNAKAVE | TDV |