Q96T55
PR
Gene name |
KCNK16 (TALK1) |
Protein name |
Potassium channel subfamily K member 16 |
Names |
2P domain potassium channel Talk-1, TWIK-related alkaline pH-activated K(+) channel 1, TALK-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83795 |
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 Q96T55
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96T55-F1 | Predicted | AlphaFoldDB |
295 variants for Q96T55
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs977826066 CA137646586 |
2 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764618810 CA137646585 |
3 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 4 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3793647 rs752652448 |
7 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364028747 rs1270377867 |
10 | W>* | No |
ClinGen gnomAD |
|
|
rs1457032373 CA364028748 |
10 | W>L | No |
ClinGen gnomAD |
|
|
CA364028755 rs1183047464 |
10 | W>R | No |
ClinGen TOPMed |
|
|
rs1024812014 CA137646581 |
11 | G>D | No |
ClinGen gnomAD |
|
|
rs1283403510 CA364028732 |
12 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA137646575 rs959244804 |
13 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs139048185 CA3793645 |
13 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364028710 rs1583793271 |
14 | V>G | No |
ClinGen Ensembl |
|
|
rs759041433 CA3793644 |
14 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759041433 CA3793643 |
14 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364028707 rs1447681526 |
15 | L>V | No |
ClinGen gnomAD |
|
|
rs760839112 CA3793642 |
16 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1399673497 CA364028666 |
20 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1341786211 CA364028651 |
21 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1329367197 CA364028638 |
22 | V>D | No |
ClinGen TOPMed |
|
|
CA364028629 rs1391884766 |
23 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1583793152 CA364028615 |
24 | Y>S | No |
ClinGen Ensembl |
|
|
rs1179829590 CA364028602 |
25 | L>Q | No |
ClinGen gnomAD |
|
|
rs776165620 CA3793637 |
28 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 29 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 30 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364028505 rs1451871982 |
35 | L>Q | No |
ClinGen gnomAD |
|
|
CA364028490 rs894531413 |
36 | E>D | No |
ClinGen TOPMed |
|
|
CA364028498 rs1288837986 |
36 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs541756062 CA3793635 |
37 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1355746190 CA364028476 |
38 | Q>K | No |
ClinGen gnomAD |
|
|
CA364028470 rs1309812519 |
38 | Q>R | No |
ClinGen gnomAD |
|
|
CA3793632 rs201912121 |
39 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770444186 CA3793634 |
39 | A>S | No |
ClinGen ExAC |
|
|
CA3793633 COSM1078995 rs201912121 COSM1078994 |
39 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3793629 rs576038963 |
40 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748155237 CA3793630 |
40 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364028438 rs754825250 |
41 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754825250 CA3793628 |
41 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906468865 CA137646519 |
42 | Q>R | No |
ClinGen TOPMed |
|
|
CA364028418 rs1323298170 |
43 | S>C | No |
ClinGen gnomAD |
|
|
rs1396251400 TCGA novel CA364028398 |
45 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
rs199507574 CA3793626 |
45 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199507574 CA3793625 |
45 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1454538543 CA364028392 |
46 | Q>E | No |
ClinGen gnomAD |
|
|
CA364028383 rs1159736323 |
46 | Q>H | No |
ClinGen gnomAD |
|
|
rs1433237496 CA364028368 |
47 | F>L | No |
ClinGen TOPMed |
|
|
rs750625612 CA3793624 |
48 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112232325 CA137646510 |
49 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761863903 CA3793622 |
49 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1196847279 CA364028332 |
50 | E>D | No |
ClinGen gnomAD |
|
|
CA364028341 rs1478147467 |
50 | E>Q | No |
ClinGen gnomAD |
|
|
rs932781366 CA137646505 |
50 | E>V | No |
ClinGen gnomAD |
|
|
rs567047240 CA137646500 |
52 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs764549881 CA3793620 |
53 | R>C | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364028307 rs764549881 |
53 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA3793619 rs376531453 |
53 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA364028309 rs764549881 |
53 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3793617 rs770164672 |
56 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3793616 rs760313865 |
57 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA137646487 rs374385327 |
59 | T>I | No |
ClinGen ESP TOPMed |
|
|
CA364028232 rs1282813491 |
60 | C>* | No |
ClinGen gnomAD |
|
|
CA3793614 rs771722422 |
61 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3793612 rs779024368 |
62 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA364028218 rs1371705243 |
63 | Q>* | No |
ClinGen TOPMed |
|
|
CA137646477 rs769336548 |
64 | W>R | No |
ClinGen Ensembl |
|
|
CA364028178 rs1414480761 |
66 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA364028183 rs1177584707 |
66 | M>V | No |
ClinGen gnomAD |
|
|
CA3793609 rs779750512 |
67 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478628908 CA364028160 |
67 | E>D | No |
ClinGen gnomAD |
|
|
rs1423855856 CA364028170 |
67 | E>K | No |
ClinGen gnomAD |
|
|
rs1228457778 CA364028115 |
71 | Q>R | No |
ClinGen TOPMed |
|
|
CA3793580 rs754182367 |
75 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 76 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364027353 rs1180442429 |
84 | K>E | No |
ClinGen gnomAD |
|
|
rs146890431 CA3793574 |
85 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 86 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 90 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3793570 rs769725060 |
91 | S>C | No |
ClinGen ExAC |
|
|
CA3793568 rs558260695 |
91 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225629021 CA364027236 |
91 | S>R | No |
ClinGen TOPMed |
|
|
rs1222850642 CA364027212 |
93 | W>* | No |
ClinGen gnomAD |
|
|
rs368558702 CA3793567 |
94 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775571313 CA137645218 |
95 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 95 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770709185 CA3793566 |
98 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA364027114 rs1293407922 |
99 | F>L | No |
ClinGen TOPMed |
|
|
CA3793564 rs61751240 |
101 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374346625 CA3793565 |
101 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs568188267 CA3793562 |
102 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200932709 CA137645201 |
103 | G>D | No |
ClinGen Ensembl |
|
|
rs1389289717 CA364027039 |
106 | V>I | No |
ClinGen gnomAD |
|
|
CA3793560 rs755557538 |
107 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA364027019 rs1562090447 |
108 | T>A | No |
ClinGen Ensembl |
|
|
CA364027004 rs1187016347 |
109 | I>R | No |
ClinGen TOPMed |
|
| TCGA novel | 109 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768612699 CA3793540 |
110 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs754365270 CA3793559 |
110 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA364026766 rs1562089777 |
111 | Y>* | No |
ClinGen Ensembl |
|
|
rs373415096 CA3793539 |
111 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780647196 CA3793538 |
115 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780647196 CA364026745 |
115 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867913083 CA137644764 |
117 | S>I | No |
ClinGen gnomAD |
|
|
CA364026731 rs867913083 |
117 | S>N | No |
ClinGen gnomAD |
|
|
CA3793537 rs770493748 |
119 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs944644196 CA137644763 |
119 | E>K | No |
ClinGen Ensembl |
|
|
CA3793535 rs781390762 |
120 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750771477 CA3793536 |
120 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs781390762 CA137644751 |
120 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758114795 CA3793534 |
121 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA3793533 rs752291230 |
121 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3793531 rs758989727 |
122 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA364026704 rs1321060227 |
122 | Q>R | No |
ClinGen gnomAD |
|
|
CA3793530 rs753781694 |
123 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA3793529 rs766265579 |
124 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1404417635 CA364026674 |
127 | F>L | No |
ClinGen gnomAD |
|
|
rs771733614 CA3793526 |
128 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3793527 rs543989361 |
128 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364026664 rs543989361 |
128 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1224277438 CA364026660 |
129 | A>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 129 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774420414 CA3793524 |
130 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs749310698 CA3793522 |
131 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364026644 rs1444682583 |
132 | G>R | No |
ClinGen gnomAD |
|
|
CA364026635 rs1202553972 |
133 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs770475707 CA3793520 |
133 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770475707 CA137644717 |
133 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770475707 CA364026636 |
133 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746348417 CA3793519 |
134 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562223126 CA3793517 |
136 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3793516 rs147045595 |
137 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs188643023 CA3793515 |
138 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs953281799 CA137644700 |
139 | F>L | No |
ClinGen TOPMed |
|
|
rs956843435 CA137644696 |
140 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1225673098 CA364026590 |
141 | N>T | No |
ClinGen TOPMed |
|
|
CA364026582 rs1583784925 |
142 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 143 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364026573 rs1583784902 |
143 | L>R | No |
ClinGen Ensembl |
|
|
rs140487595 CA3793513 |
146 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs573155830 CA3793510 |
148 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3793509 rs573155830 |
148 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761453929 CA3793508 |
148 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1366567581 CA364026540 |
150 | H>D | No |
ClinGen TOPMed |
|
|
CA137644666 rs1005921885 |
151 | L>P | No |
ClinGen TOPMed |
|
|
COSM4006497 CA364026526 rs1386344741 COSM4006495 COSM4006496 |
152 | A>V | kidney urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3793505 COSM75085 rs763247743 |
153 | A>T | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 153 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775755174 CA3793504 |
154 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182057201 CA364026512 |
155 | E>K | No |
ClinGen gnomAD |
|
|
CA364026511 rs1182057201 |
155 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA364026504 rs1436906419 |
156 | R>G | No |
ClinGen gnomAD |
|
|
rs1270619520 CA364026500 |
156 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1211475035 CA364026492 |
157 | W>L | No |
ClinGen gnomAD |
|
|
rs1027333015 CA137644653 |
158 | E>K | No |
ClinGen Ensembl |
|
|
rs191105194 CA3793503 |
159 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1163183974 CA364026481 |
159 | D>N | No |
ClinGen TOPMed |
|
|
CA3793502 rs746438375 |
160 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137644649 rs746438375 |
160 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3793501 rs143298761 |
160 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771331586 CA3793500 |
161 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs146487869 CA3793498 |
163 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1444356 rs556042374 COSM1444355 CA3793496 |
163 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3793497 rs556042374 |
163 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA137644632 rs146487869 |
163 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364026455 rs1327121021 |
164 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3793488 rs763336111 |
166 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1160483559 CA364026037 |
169 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 171 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3793485 rs61745897 |
172 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3793484 rs555715474 |
173 | A>S | Variant assessed as Somatic; 0.0001416 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA364026013 rs1480584997 |
173 | A>V | No |
ClinGen gnomAD |
|
|
rs773605907 CA3793481 |
177 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773605907 CA3793482 |
177 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 178 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748998245 CA3793479 |
180 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364025972 rs1282311973 |
181 | L>Q | No |
ClinGen gnomAD |
|
|
rs745326605 CA3793476 |
181 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1324625005 CA364025965 |
182 | V>A | No |
ClinGen gnomAD |
|
|
CA3793474 rs374259449 |
185 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3793473 rs751513169 |
187 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3830443 rs1583783016 CA364025919 COSM3830444 COSM3830442 |
189 | M>I | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs777772336 CA364025915 |
190 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777772336 CA3793472 |
190 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777772336 CA364025916 |
190 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364025877 rs1470555506 |
195 | E>G | No |
ClinGen gnomAD |
|
|
CA364025876 rs1470555506 |
195 | E>V | No |
ClinGen gnomAD |
|
|
CA364025869 rs1342901852 |
196 | G>A | No |
ClinGen gnomAD |
|
|
rs1342901852 CA364025870 |
196 | G>D | No |
ClinGen gnomAD |
|
|
rs1431547247 CA364025872 |
196 | G>R | No |
ClinGen gnomAD |
|
|
rs765517714 CA3793469 |
197 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765517714 CA137644111 |
197 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428232710 CA364025853 |
198 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1420456553 CA364025846 |
199 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1186959552 CA364025842 |
200 | S>N | No |
ClinGen gnomAD |
|
|
rs573563093 CA3793468 |
200 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA137644102 rs373034988 |
201 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3793466 rs766449048 |
201 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA137644100 rs898683842 |
202 | G>S | No |
ClinGen TOPMed |
|
|
CA3793465 rs138247562 |
204 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3793464 rs41273132 |
208 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146660139 CA364025784 |
208 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775152056 CA3793461 |
211 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA364025768 rs1436732786 |
211 | S>N | No |
ClinGen TOPMed |
|
|
rs1320798337 CA364025766 |
211 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA137644092 rs940322198 |
212 | T>I | No |
ClinGen gnomAD |
|
|
rs769278878 CA3793460 |
213 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs9462527 VAR_063636 |
215 | F>L | No |
UniProt dbSNP |
|
|
rs780635555 CA3793458 |
216 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364025722 rs1404764487 |
218 | Y>C | No |
ClinGen gnomAD |
|
|
rs1562088506 CA364025716 |
219 | V>D | No |
ClinGen Ensembl |
|
|
CA3793456 rs746936587 |
219 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA364025690 rs1204995041 |
221 | G>A | No |
ClinGen TOPMed |
|
|
CA364025684 rs1231744049 |
222 | T>K | No |
ClinGen TOPMed |
|
|
CA364025682 rs1359440826 |
223 | D>N | No |
ClinGen gnomAD |
|
|
CA3793433 rs577890860 |
229 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM108280 rs144918183 CA137643869 |
230 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs778638759 CA3793432 |
231 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA364025614 rs3734618 |
232 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754787111 CA3793431 |
232 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756175658 CA3793428 |
233 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3793429 rs780255730 |
233 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1303573180 CA364025607 |
234 | S>N | No |
ClinGen gnomAD |
|
|
rs1404253299 CA364025603 |
234 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3793427 rs372021859 |
236 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 237 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364025584 rs1290574016 |
238 | I>F | No |
ClinGen gnomAD |
|
|
CA3793426 rs767559762 |
238 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137643834 rs767559762 |
238 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364483250 CA364025578 |
239 | W>* | No |
ClinGen gnomAD |
|
|
rs757798748 CA3793425 |
240 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA3793424 rs752051016 |
242 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471757350 CA364025559 |
242 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759377145 CA137643830 |
243 | G>D | No |
ClinGen Ensembl |
|
|
CA364025544 rs764383792 |
244 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763314461 CA3793422 |
245 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954340211 CA137643803 |
246 | W>* | No |
ClinGen TOPMed |
|
|
CA364025485 rs766008362 |
248 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3793420 rs766008362 COSM257207 |
248 | A>V | Variant assessed as Somatic; 4.818e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772890233 CA364025479 |
249 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs772890233 CA3793417 |
249 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA137643786 rs771706193 |
251 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3793416 rs771706193 |
251 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3793415 rs748152952 |
252 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3793413 rs749071177 |
254 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3793412 rs749071177 |
254 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382759848 CA364025403 |
255 | P>H | No |
ClinGen gnomAD |
|
|
rs1382759848 CA364025405 |
255 | P>R | No |
ClinGen gnomAD |
|
|
CA3793409 rs1554192620 |
256 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 257 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364025368 rs1288433919 |
259 | H>Y | No |
ClinGen gnomAD |
|
|
rs1455831528 CA364025334 |
261 | C>Y | No |
ClinGen gnomAD |
|
|
rs1408504953 CA364025316 |
262 | C>* | No |
ClinGen gnomAD |
|
|
rs756374429 CA3793408 |
263 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3793407 rs746056366 CA364025301 |
263 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
| TCGA novel | 265 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781314324 CA3793406 |
266 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA364023794 rs1583778717 |
268 | S>R | No |
ClinGen Ensembl |
|
|
rs1476211514 CA364023781 |
270 | R>K | No |
ClinGen TOPMed |
|
|
CA3793341 rs749781944 |
271 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161198883 CA364023762 |
273 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780630905 CA3793340 |
273 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1535500 VAR_063637 CA364025130 |
275 | A>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3793338 rs746685940 COSM1078976 |
277 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3793336 rs747315209 |
279 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 279 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753765755 CA3793332 |
283 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3793333 rs753765755 |
283 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA364023690 rs868550766 |
284 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs561401332 CA137643151 |
285 | R>T | No |
ClinGen Ensembl |
|
|
rs766212013 CA3793330 |
286 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs766212013 CA364023679 |
286 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA364023671 rs1234472825 |
288 | T>A | No |
ClinGen TOPMed |
|
|
CA137643149 rs773857908 |
288 | T>I | No |
ClinGen Ensembl |
|
|
CA137643145 rs978893950 |
291 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA364023646 rs1388399858 |
292 | G>E | No |
ClinGen gnomAD |
|
|
rs1427791585 CA364023647 |
292 | G>R | No |
ClinGen gnomAD |
|
|
CA3793327 rs767582088 |
297 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3793326 rs138573996 |
298 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3793324 rs147542213 |
299 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3793325 rs147542213 |
299 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364023602 rs1180365106 |
299 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA364023599 rs1233865728 |
300 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3793322 rs11756091 VAR_052430 |
301 | P>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA364023580 rs1294603939 |
302 | I>M | No |
ClinGen gnomAD |
|
|
rs1482398834 CA364023582 |
302 | I>T | No |
ClinGen gnomAD |
|
|
rs866810861 CA364023575 |
303 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs866810861 CA137643118 |
303 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3793321 rs770227767 |
304 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1417176809 CA364023570 |
304 | K>R | No |
ClinGen TOPMed |
|
|
CA364023566 rs1310077678 |
305 | K>E | No |
ClinGen gnomAD |
|
|
CA364023558 CA364023559 rs1225169124 |
306 | G>R | No |
ClinGen gnomAD |
|
|
rs1352093727 CA364023550 |
307 | L>P | No |
ClinGen gnomAD |
|
|
rs868693085 CA137643112 |
308 | G>E | No |
ClinGen Ensembl |
|
|
CA3793320 rs746170643 |
308 | G>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q96T55
No regional properties for Q96T55
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96T55 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| outward rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by an outwardly-rectifying voltage-gated channel. An outwardly rectifying current-voltage relation is one where at any given driving force the outward flow of K+ ions exceeds the inward flow for the opposite driving force. |
| 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. |
| potassium ion leak channel activity | Enables the transport of a potassium ion across a membrane via a narrow pore channel that is open even in an unstimulated or 'resting' state. |
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. |
| 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. |
| stabilization of membrane potential | The accomplishment of a non-fluctuating membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z418 | KCNK18 | Potassium channel subfamily K member 18 | Homo sapiens (Human) | PR |
| O08581 | Kcnk1 | Potassium channel subfamily K member 1 | Mus musculus (Mouse) | PR |
| Q6VV64 | Kcnk18 | Potassium channel subfamily K member 18 | Mus musculus (Mouse) | PR |
| Q850M0 | TPKA | Two pore potassium channel a | Oryza sativa subsp japonica (Rice) | PR |
| Q22271 | unc-58 | Uncoordinated protein 58 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSAGLCSCW | GGRVLPLLLA | YVCYLLLGAT | IFQLLERQAE | AQSRDQFQLE | KLRFLENYTC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LDQWAMEQFV | QVIMEAWVKG | VNPKGNSTNP | SNWDFGSSFF | FAGTVVTTIG | YGNLAPSTEA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GQVFCVFYAL | LGIPLNVIFL | NHLGTGLRAH | LAAIERWEDR | PRRSQVLQVL | GLALFLTLGT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LVILIFPPMV | FSHVEGWSFS | EGFYFAFITL | STIGFGDYVV | GTDPSKHYIS | VYRSLAAIWI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLGLAWLALI | LPLGPLLLHR | CCQLWLLSLR | QGCGAKAAPG | RRPRRGSTAA | RGVQVTPQDF |
| PISKKGLGS |