Q9H3M0
PR
Gene name |
KCNF1 |
Protein name |
Potassium voltage-gated channel subfamily F member 1 |
Names |
Voltage-gated potassium channel subunit Kv5.1, kH1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3754 |
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 Q9H3M0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H3M0-F1 | Predicted | AlphaFoldDB |
327 variants for Q9H3M0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000149127 CA174408 rs193920977 COSM1178780 |
83 | P>L | Malignant tumor of prostate Variant assessed as Somatic; impact. prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345832959 rs1396158118 |
2 | D>E | No |
ClinGen TOPMed |
|
|
CA42521849 CA345832967 rs976327831 |
3 | G>R | No |
ClinGen TOPMed |
|
|
rs757361037 CA1528867 |
5 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345833030 rs1475690993 |
6 | E>G | No |
ClinGen TOPMed |
|
|
rs1370867590 CA345833020 |
6 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1259867153 CA345833049 |
7 | R>C | No |
ClinGen TOPMed |
|
|
CA1528868 rs778938776 |
7 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389207494 CA345833102 |
10 | P>L | No |
ClinGen gnomAD |
|
|
rs1437211005 CA345833104 |
11 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA42521878 rs979626268 |
12 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345833119 rs1325710914 |
12 | P>S | No |
ClinGen gnomAD |
|
|
CA1528871 rs550642036 |
13 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1320993804 CA345833146 |
14 | S>N | No |
ClinGen gnomAD |
|
|
rs769564298 CA1528873 |
15 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345833185 rs1268212799 |
15 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1207467675 CA345833239 |
17 | S>F | No |
ClinGen gnomAD |
|
|
CA345833243 rs1260077956 |
18 | A>T | No |
ClinGen gnomAD |
|
|
CA42521899 rs947352277 |
18 | A>V | No |
ClinGen Ensembl |
|
|
rs924999907 CA42521901 |
19 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs924999907 CA42521903 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772769148 CA1528874 |
20 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA42521920 rs1054830585 CA42521922 |
20 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs949096262 CA345833316 |
21 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA345833322 rs1384440310 |
22 | D>N | No |
ClinGen gnomAD |
|
|
CA345833358 rs1043046309 |
23 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
CA42521926 rs1043046309 |
23 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1412873497 CA345833347 |
23 | I>V | No |
ClinGen gnomAD |
|
|
rs1156787272 CA345833399 |
25 | I>V | No |
ClinGen gnomAD |
|
|
CA345833422 rs1383938722 |
26 | V>I | No |
ClinGen gnomAD |
|
|
rs1420038155 CA345833486 |
29 | V>A | No |
ClinGen TOPMed |
|
|
rs1343177506 CA345833480 |
29 | V>M | No |
ClinGen gnomAD |
|
|
CA345833496 rs1288414514 |
30 | G>E | No |
ClinGen gnomAD |
|
|
CA345833512 rs760188585 |
33 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA1528879 rs199875738 |
35 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1528880 rs753194893 |
36 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1199059927 CA345833534 |
37 | Y>H | No |
ClinGen gnomAD |
|
|
CA345833541 rs1252594915 |
38 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1528882 rs764481728 |
39 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs757436594 CA1528884 |
44 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs750484493 CA1528886 |
46 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345833609 rs1467137680 |
48 | R>W | No |
ClinGen TOPMed |
|
|
CA42522044 rs545635060 |
50 | A>G | No |
ClinGen gnomAD |
|
|
CA42522053 rs545635060 |
50 | A>V | No |
ClinGen gnomAD |
|
|
CA345833625 rs1305683169 |
51 | E>G | No |
ClinGen gnomAD |
|
|
rs141961283 CA1528889 |
51 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1528891 rs777604028 |
55 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA345833665 rs1336340013 |
57 | A>S | No |
ClinGen TOPMed |
|
|
rs370503620 CA1528893 |
58 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 59 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048245286 CA42522083 |
59 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774063812 CA1528894 |
61 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1350915960 CA345833702 |
63 | I>V | No |
ClinGen TOPMed |
|
|
CA345833733 rs771646638 |
67 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1442215492 CA345833766 |
71 | D>E | No |
ClinGen TOPMed |
|
|
rs1185412337 CA345833759 |
71 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1528900 rs777047131 |
73 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs762076343 CA345833787 |
75 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762076343 CA345833786 |
75 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345833788 rs1371954927 |
75 | R>H | No |
ClinGen gnomAD |
|
|
CA1528901 rs762076343 |
75 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1528903 rs750576434 |
84 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1297095925 CA345833858 |
85 | A>S | No |
ClinGen gnomAD |
|
|
rs1317842022 CA345833872 |
87 | K>Q | No |
ClinGen gnomAD |
|
|
CA345833880 rs1408983491 |
88 | C>S | No |
ClinGen TOPMed |
|
|
CA345833908 rs767407657 |
91 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1298801691 CA345833924 |
94 | Y>H | No |
ClinGen gnomAD |
|
|
rs1309422095 CA345833926 |
94 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766432391 CA1528905 |
95 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752626584 CA1528906 |
98 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 98 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138975329 CA1528907 |
100 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 101 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194220572 CA345834005 |
105 | C>Y | No |
ClinGen TOPMed |
|
|
rs1188903259 CA345834055 |
111 | N>K | No |
ClinGen gnomAD |
|
|
CA1528911 rs778717363 |
122 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1470644752 CA345834162 |
125 | D>E | No |
ClinGen gnomAD |
|
|
rs771507066 CA1528913 |
126 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1528915 rs747533084 |
129 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1528916 rs201047040 |
130 | H>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA1528917 rs776941951 COSM1641617 |
132 | S>N | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA345834212 rs1295186764 |
132 | S>R | No |
ClinGen gnomAD |
|
|
CA345834223 rs1225358062 |
133 | E>A | No |
ClinGen gnomAD |
|
|
rs1313019497 CA345834216 |
133 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 135 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 136 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773444645 COSM1005343 CA1528920 |
136 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345834367 rs1484801426 |
143 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA345834376 rs1185741764 |
143 | R>H | No |
ClinGen gnomAD |
|
|
CA345834368 rs1484801426 |
143 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751654561 CA1528923 |
144 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1370331713 CA345834388 |
144 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1528925 rs764108317 COSM1398743 |
145 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 147 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757151428 CA345834480 |
150 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142872443 CA1528929 |
152 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1528932 rs779483984 |
154 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779483984 CA1528931 |
154 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 154 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767981110 CA1528933 |
156 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1528935 COSM312166 rs748605697 |
157 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA345834602 rs1322973123 |
157 | A>V | No |
ClinGen gnomAD |
|
|
CA1528938 rs763151198 |
158 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1528937 rs773536391 COSM1751977 |
158 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA345834636 rs1265820847 |
159 | G>D | No |
ClinGen gnomAD |
|
|
CA1528939 rs771173964 |
159 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346189569 CA345834650 |
160 | R>C | No |
ClinGen gnomAD |
|
|
CA42522436 rs989388349 |
160 | R>L | No |
ClinGen Ensembl |
|
|
rs774379834 CA1528940 |
162 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA345834705 rs759669416 |
163 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs759669416 CA1528941 |
163 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1528942 rs767457391 |
164 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs753853334 CA1528943 |
166 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1410748186 CA345834800 |
167 | C>W | No |
ClinGen gnomAD |
|
|
rs1178453315 CA345834795 |
167 | C>Y | No |
ClinGen gnomAD |
|
|
rs1158819101 CA345834858 |
169 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1399482017 CA345834845 |
169 | W>* | No |
ClinGen gnomAD |
|
|
rs1366655124 CA345834988 |
175 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345835000 rs1301581394 |
176 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs978711250 CA42522473 |
177 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 177 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345835073 rs1281351421 |
179 | C>F | No |
ClinGen gnomAD |
|
|
CA345835064 rs1281351421 |
179 | C>Y | No |
ClinGen gnomAD |
|
|
CA345835094 rs1223203503 |
180 | P>R | No |
ClinGen gnomAD |
|
|
CA1528948 rs779758113 |
180 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA345835106 rs1361376398 |
181 | A>E | No |
ClinGen gnomAD |
|
|
rs537683504 CA1528950 |
182 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1483196736 CA345835151 |
183 | V>A | No |
ClinGen gnomAD |
|
|
rs1214450871 CA345835167 |
185 | A>D | No |
ClinGen TOPMed |
|
|
CA345835163 rs1230735235 |
185 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA345835263 rs1446776384 |
191 | L>F | No |
ClinGen gnomAD |
|
|
rs1365124225 CA345835295 |
192 | I>T | No |
ClinGen gnomAD |
|
|
CA345835306 rs1410755309 |
193 | L>I | No |
ClinGen gnomAD |
|
|
CA345835336 rs1352902271 |
194 | V>L | No |
ClinGen gnomAD |
|
|
CA1528955 rs749678874 |
195 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1528957 rs774668289 |
197 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345835367 rs774668289 |
197 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345835385 rs1295208727 |
198 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 199 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345835452 rs1339643707 |
201 | M>L | No |
ClinGen gnomAD |
|
|
rs772331557 CA1528959 |
205 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 206 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1353579439 CA345835614 |
207 | L>M | No |
ClinGen gnomAD |
|
|
rs765275954 CA345835664 |
209 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765275954 CA1528962 |
209 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 211 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42522593 rs917703735 |
212 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA345835729 rs917703735 |
212 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA42522594 COSM1255277 rs949015594 |
212 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA345835754 COSM1305541 rs1182064793 |
213 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA345835792 rs1475860305 |
214 | G>D | No |
ClinGen gnomAD |
|
|
rs1385063493 CA345835781 |
214 | G>S | No |
ClinGen gnomAD |
|
|
rs1484457365 CA345835827 |
215 | N>K | No |
ClinGen TOPMed |
|
|
CA345835837 rs1169907392 |
216 | R>C | No |
ClinGen gnomAD |
|
|
CA1528965 rs147777200 |
217 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1337505283 CA345835918 |
221 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1528967 rs754554904 |
222 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1326849426 CA345835947 |
223 | E>D | No |
ClinGen gnomAD |
|
|
CA42522621 rs867288695 |
224 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345835951 rs867288695 |
224 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs987567389 CA42522634 |
225 | V>M | No |
ClinGen gnomAD |
|
|
CA345835962 rs1338383462 |
226 | E>* | No |
ClinGen gnomAD |
|
|
rs752190108 CA1528969 |
227 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326257301 COSM3938456 CA345835993 |
228 | A>V | Variant assessed as Somatic; 5.061e-05 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1528970 rs755564874 |
233 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA345836070 rs1572751886 |
234 | T>P | No |
ClinGen Ensembl |
|
|
rs749721460 CA1528972 |
235 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA345836110 rs1572751897 |
237 | Y>D | No |
ClinGen Ensembl |
|
|
rs912001021 CA42522713 |
241 | L>F | No |
ClinGen Ensembl |
|
|
CA345836898 rs1177170619 |
244 | S>A | No |
ClinGen gnomAD |
|
|
CA345836905 rs1431626338 |
245 | P>H | No |
ClinGen gnomAD |
|
|
CA345836912 rs1258730021 |
246 | N>S | No |
ClinGen gnomAD |
|
|
rs1175681937 CA345836931 |
249 | H>Y | No |
ClinGen gnomAD |
|
|
rs943845970 CA42522738 |
251 | A>S | No |
ClinGen Ensembl |
|
|
CA1528975 rs746144615 |
251 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345836992 rs1222194635 |
257 | I>V | No |
ClinGen gnomAD |
|
|
rs773222597 CA345837061 |
260 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773222597 CA1528980 COSM3390855 |
260 | V>M | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1282612512 CA345837126 |
263 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 265 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA42522806 rs889621996 |
267 | Y>C | No |
ClinGen TOPMed |
|
|
CA345837309 rs1271115958 |
269 | S>G | No |
ClinGen gnomAD |
|
|
CA1528984 rs759245380 |
270 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1189232095 CA345837384 |
271 | T>M | No |
ClinGen TOPMed |
|
|
CA1528988 rs763548688 |
275 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754419690 CA1528989 |
278 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1363352335 CA345837511 |
278 | R>L | No |
ClinGen gnomAD |
|
|
rs1307089981 CA345837539 |
279 | M>I | No |
ClinGen gnomAD |
|
|
rs1403750573 CA345837535 |
279 | M>R | No |
ClinGen gnomAD |
|
|
RCV001261802 rs1661571229 |
282 | L>P | No |
ClinVar dbSNP |
|
|
rs757678960 CA1528990 |
284 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1278116962 CA345837657 |
285 | V>G | No |
ClinGen gnomAD |
|
|
rs1241881536 CA345837649 |
285 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371877225 CA1528992 |
287 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345837701 rs1294169611 |
288 | A>T | No |
ClinGen gnomAD |
|
|
rs747176275 CA1528995 |
289 | V>L | No |
ClinGen ExAC |
|
|
rs768905247 CA1528996 |
291 | A>E | No |
ClinGen ExAC |
|
|
CA1528998 rs749314936 |
293 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA345837756 rs1420806735 COSM1005345 |
294 | I>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA345837772 rs1179631211 |
296 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 296 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 298 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 298 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 308 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774286794 CA1529000 |
310 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA345837879 rs1408325931 |
312 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA345837900 rs1393622568 |
316 | A>T | No |
ClinGen gnomAD |
|
|
rs1327379265 CA345837905 |
316 | A>V | No |
ClinGen gnomAD |
|
|
CA345837922 rs1357532034 |
319 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760300320 CA1529004 |
319 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753288456 CA1529006 |
322 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756730123 CA1529007 |
325 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1529010 rs201163636 |
329 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345837998 rs1383214861 |
330 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs747274004 CA1529012 |
345 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs755245489 CA1529013 |
347 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1400132015 CA345838104 |
347 | Q>K | No |
ClinGen gnomAD |
|
|
CA345838118 rs1211697868 |
348 | S>R | No |
ClinGen TOPMed |
|
|
CA1529014 rs781391412 |
351 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1395651423 CA345838151 |
354 | F>I | No |
ClinGen gnomAD |
|
|
rs1046004 CA42523074 |
356 | S>N | No |
ClinGen Ensembl |
|
|
rs1309520828 CA345838195 |
360 | S>T | No |
ClinGen gnomAD |
|
|
CA345838232 rs1257521579 |
364 | A>V | No |
ClinGen gnomAD |
|
|
CA42523099 rs987877881 |
368 | M>T | No |
ClinGen Ensembl |
|
|
CA42523120 rs866240557 |
378 | P>H | No |
ClinGen Ensembl |
|
|
CA345838360 rs1263315544 |
381 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA42523138 rs1046005 |
383 | G>R | No |
ClinGen TOPMed |
|
|
CA42523137 rs1046005 |
383 | G>S | No |
ClinGen TOPMed |
|
|
COSM1005347 CA345838392 rs1192281764 |
385 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761257487 CA1529024 |
387 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM312165 CA42523140 rs866757061 |
388 | A>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs751013676 CA1529026 |
392 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA345838598 rs1380803883 |
399 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346277621 CA345838699 |
405 | I>T | No |
ClinGen gnomAD |
|
|
rs1277642004 CA345838696 |
405 | I>V | No |
ClinGen gnomAD |
|
|
CA42523160 rs749594660 |
406 | I>V | No |
ClinGen Ensembl |
|
|
rs1261131544 CA345838861 |
414 | N>S | No |
ClinGen gnomAD |
|
|
CA1529030 COSM1211458 rs755311321 |
417 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA345838940 rs1172139251 |
418 | V>G | No |
ClinGen TOPMed |
|
|
rs372097411 CA1529031 |
418 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1527784 rs201734044 CA1529032 |
420 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA345838955 rs1558489865 |
420 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 422 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745849015 CA345838974 |
422 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1005350 rs745849015 CA1529035 |
422 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771996767 CA1529036 |
422 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1423603893 CA345838977 |
423 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746807169 CA1529038 |
424 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA345839026 rs1347385677 |
426 | E>* | No |
ClinGen gnomAD |
|
|
rs1366460433 CA345839079 |
430 | M>I | No |
ClinGen gnomAD |
|
|
CA345839068 rs1297767109 |
430 | M>L | No |
ClinGen gnomAD |
|
|
CA345839067 rs1297767109 |
430 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 431 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217677035 CA345839111 |
432 | L>F | No |
ClinGen TOPMed |
|
|
rs761502406 CA1529041 |
433 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769225801 CA1529042 |
435 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA345839149 rs1558489905 |
435 | S>N | No |
ClinGen Ensembl |
|
|
CA345839192 rs1224334385 CA345839194 |
437 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 438 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1529044 rs763611972 |
438 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345839221 rs1481413070 |
438 | G>S | No |
ClinGen gnomAD |
|
|
CA345839231 rs763611972 |
438 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1529046 rs752047195 |
439 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM3425100 CA345839238 rs1292006652 |
439 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759849978 CA1529047 |
441 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs369851909 CA1529048 |
441 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1245685017 CA345839303 |
441 | K>R | No |
ClinGen gnomAD |
|
|
rs1295637092 CA345839312 |
442 | T>A | No |
ClinGen TOPMed |
|
|
rs1295637092 CA345839311 |
442 | T>P | No |
ClinGen TOPMed |
|
|
rs1410590337 CA345839326 |
443 | G>R | No |
ClinGen gnomAD |
|
|
rs756330748 CA1529050 |
444 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345839340 rs756330748 |
444 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777899692 CA1529051 |
445 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1239194 CA1529052 rs373365915 |
446 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1529053 rs373365915 |
446 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779994024 CA1529054 |
446 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779994024 CA345839377 |
446 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 446 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345839382 rs1321661714 |
447 | S>G | No |
ClinGen gnomAD |
|
|
rs199981711 CA42523339 |
447 | S>N | No |
ClinGen 1000Genomes |
|
|
rs901905872 CA42523340 |
447 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA345839410 rs1442802842 |
448 | D>V | No |
ClinGen gnomAD |
|
|
CA345839430 rs1454952087 |
450 | D>N | No |
ClinGen gnomAD |
|
|
CA345839456 rs1572752366 |
451 | N>T | No |
ClinGen Ensembl |
|
|
CA345839509 rs1194467986 |
454 | P>R | No |
ClinGen TOPMed |
|
|
rs768095681 CA1529056 |
454 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315489955 CA345839548 |
456 | P>L | No |
ClinGen gnomAD |
|
|
rs374035056 CA1529058 |
457 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1437957849 CA345839575 |
458 | G>E | No |
ClinGen gnomAD |
|
|
CA345839573 rs1437957849 |
458 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772941611 CA1529060 |
458 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA1529062 rs770524900 |
460 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs149685660 CA1529063 |
461 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345839617 rs1456833300 |
461 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345839621 rs1456833300 |
461 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs149685660 CA1529064 |
461 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140683647 CA1529066 |
462 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140683647 CA1529067 |
462 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA345839632 rs1258208383 |
462 | P>T | No |
ClinGen TOPMed |
|
|
CA1529069 rs754016090 |
464 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs376778174 CA42523429 |
465 | S>G | No |
ClinGen ESP TOPMed |
|
|
CA42523432 rs765274857 |
467 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs751488924 CA1529072 |
467 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765274857 CA1529071 |
467 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs570687002 CA42523436 |
468 | L>P | No |
ClinGen 1000Genomes |
|
|
rs754937034 CA42523437 |
474 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1529073 rs754937034 |
474 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1529074 rs780905302 |
475 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445327686 CA345839868 |
476 | F>V | No |
ClinGen gnomAD |
|
|
CA1529075 rs747988017 |
477 | I>V | No |
ClinGen ExAC gnomAD |
|
| rs972503924 | 479 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA345839928 rs1467261386 |
479 | L>V | No |
ClinGen TOPMed |
|
|
rs138500972 CA1529080 |
482 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA42523465 rs920711019 |
482 | E>D | No |
ClinGen TOPMed |
|
|
CA1529079 rs138500972 |
482 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 484 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 486 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746431553 CA1529081 |
486 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA345840139 rs1238714772 |
488 | T>I | No |
ClinGen TOPMed |
|
|
CA345840158 rs1462893208 |
489 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9H3M0
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary base | Area of the cilium (also called flagellum) where the basal body and the axoneme are anchored to the plasma membrane. The ciliary base encompasses the distal part of the basal body, transition fibers and transition zone and is structurally and functionally very distinct from the rest of the cilium. In this area proteins are sorted and filtered before entering the cilium, and many ciliary proteins localize specifically to this area. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| potassium channel activity | Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| 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. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| non-motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium. |
| 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 |
|---|---|---|---|---|
| Q4ZHA6 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Bos taurus (Bovine) | PR |
| P17972 | Shaw | Potassium voltage-gated channel protein Shaw | Drosophila melanogaster (Fruit fly) | 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 |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q96RP8 | KCNA7 | Potassium voltage-gated channel subfamily A member 7 | Homo sapiens (Human) | PR |
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| P22001 | KCNA3 | Potassium voltage-gated channel subfamily A member 3 | Homo sapiens (Human) | PR |
| Q16322 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Homo sapiens (Human) | PR |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | 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 |
| Q80XM3 | Kcng4 | Potassium voltage-gated channel subfamily G member 4 | Mus musculus (Mouse) | PR |
| Q03717 | Kcnb1 | Potassium voltage-gated channel subfamily B member 1 | Mus musculus (Mouse) | PR |
| O35174 | Kcns2 | Potassium voltage-gated channel subfamily S member 2 | Mus musculus (Mouse) | PR |
| A6H8H5 | Kcnb2 | Potassium voltage-gated channel subfamily B member 2 | Mus musculus (Mouse) | PR |
| Q7TSH7 | Kcnf1 | Potassium voltage-gated channel subfamily F member 1 | Mus musculus (Mouse) | PR |
| O18868 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Sus scrofa (Pig) | PR |
| Q9ER26 | Kcns2 | Potassium voltage-gated channel subfamily S member 2 | Rattus norvegicus (Rat) | PR |
| P15387 | Kcnb1 | Potassium voltage-gated channel subfamily B member 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDGSGERSLP | EPGSQSSAAS | DDIEIVVNVG | GVRQVLYGDL | LSQYPETRLA | ELINCLAGGY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DTIFSLCDDY | DPGKREFYFD | RDPDAFKCVI | EVYYFGEVHM | KKGICPICFK | NEMDFWKVDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KFLDDCCKSH | LSEKREELEE | IARRVQLILD | DLGVDAAEGR | WRRCQKCVWK | FLEKPESSCP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ARVVAVLSFL | LILVSSVVMC | MGTIPELQVL | DAEGNRVEHP | TLENVETACI | GWFTLEYLLR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LFSSPNKLHF | ALSFMNIVDV | LAILPFYVSL | TLTHLGARMM | ELTNVQQAVQ | ALRIMRIARI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FKLARHSSGL | QTLTYALKRS | FKELGLLLMY | LAVGIFVFSA | LGYTMEQSHP | ETLFKSIPQS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FWWAIITMTT | VGYGDIYPKT | TLGKLNAAIS | FLCGVIAIAL | PIHPIINNFV | RYYNKQRVLE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TAAKHELELM | ELNSSSGGEG | KTGGSRSDLD | NLPPEPAGKE | APSCSSRLKL | SHSDTFIPLL |
| 490 | |||||
| TEEKHHRTRL | QSCK |