Q7Z418
PR
Gene name |
KCNK18 (TRESK, TRIK) |
Protein name |
Potassium channel subfamily K member 18 |
Names |
TWIK-related individual potassium channel, TWIK-related spinal cord potassium channel |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:338567 |
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 Q7Z418
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z418-F1 | Predicted | AlphaFoldDB |
327 variants for Q7Z418
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs541915908 RCV000952685 RCV000490385 |
121 | Y>missing | Migraine, with or without aura, susceptibility to, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000521319 rs869025175 RCV000000011 |
139 | F>missing | Migraine, with or without aura, susceptibility to, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs372049012 RCV002524084 CA5710085 RCV000498147 |
280 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5709851 rs757212565 |
2 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201746496 CA5709853 |
4 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs376421415 CA5709855 |
5 | G>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA5709856 rs748831349 |
6 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA378505023 rs1202275319 |
7 | P>L | No |
ClinGen gnomAD |
|
|
CA378505018 rs1461272796 |
7 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769065992 CA5709858 |
8 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs769065992 CA5709857 |
8 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA378505030 rs1461857136 |
9 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5709860 rs67346047 |
10 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5709861 rs773319778 |
10 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA378505036 rs67346047 |
10 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378505052 rs1169435850 |
12 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA378505063 rs1589964469 |
13 | C>W | No |
ClinGen Ensembl |
|
| TCGA novel | 14 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424002524 CA378505064 |
14 | P>S | No |
ClinGen gnomAD |
|
|
rs1233963298 CA378505080 |
16 | A>S | No |
ClinGen TOPMed |
|
|
CA5709865 rs200988187 |
18 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575049737 CA5709866 |
19 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781592639 CA214684468 |
19 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
RCV000521577 CA5709867 rs139919378 |
20 | L>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5709869 rs781275020 |
23 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 24 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 25 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204695608 CA378505166 |
29 | F>C | No |
ClinGen gnomAD |
|
|
rs373529144 CA5709873 |
32 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373529144 CA5709874 |
32 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA214684487 rs748481119 |
33 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263671366 CA378505185 |
33 | Y>H | No |
ClinGen gnomAD |
|
|
rs1431437151 CA378505193 |
34 | A>D | No |
ClinGen gnomAD |
|
|
rs772633496 CA5709877 |
34 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_064027 | 34 | A>V | No | UniProt | |
| TCGA novel | 38 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376212691 CA214684497 |
39 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA5709879 rs761111452 |
39 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs771076173 CA5709880 |
42 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs776526309 CA5709881 |
44 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5709883 rs149711267 |
46 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA214684504 rs1033332692 |
46 | D>N | No |
ClinGen gnomAD |
|
|
rs898814885 CA214684507 |
46 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5709884 rs751470844 |
47 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259063342 CA378505274 |
48 | Q>E | No |
ClinGen gnomAD |
|
|
CA5709886 rs767366005 |
52 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5709887 rs767366005 |
52 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs3909165 VAR_037521 CA214684523 |
58 | F>Y | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA5709890 rs753262034 |
62 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378505391 rs1180944227 |
65 | L>I | No |
ClinGen gnomAD |
|
|
CA378505394 rs1432603392 |
65 | L>R | No |
ClinGen TOPMed |
|
|
CA378505405 rs1454935533 |
67 | R>G | No |
ClinGen gnomAD |
|
|
rs754699017 CA5709891 |
67 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1422290948 CA378505476 |
72 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1422290948 CA378505478 |
72 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs531334166 CA5709893 |
73 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378505502 rs1391849374 |
74 | T>A | No |
ClinGen gnomAD |
|
|
rs201294595 CA214684538 |
74 | T>K | No |
ClinGen Ensembl |
|
|
rs778162039 CA5709913 |
78 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5709912 rs778162039 |
78 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378506290 rs1427554278 |
84 | Q>K | No |
ClinGen gnomAD |
|
|
CA378506301 rs1168785435 |
84 | Q>L | No |
ClinGen gnomAD |
|
|
CA214685532 CA378506308 rs948464463 |
85 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752024872 CA214685537 |
86 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 87 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA214685539 rs111360334 |
89 | K>R | No |
ClinGen TOPMed |
|
|
rs1466624726 CA378506372 |
90 | V>A | No |
ClinGen gnomAD |
|
|
rs781541811 CA5709915 |
92 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5709916 rs746330479 |
93 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769770671 CA5709917 |
93 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5709919 rs749541800 |
94 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA214685551 rs866352461 |
97 | R>K | No |
ClinGen gnomAD |
|
|
rs768973013 CA5709920 |
97 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA378506451 rs866352461 |
97 | R>T | No |
ClinGen gnomAD |
|
|
rs773178608 CA5709921 |
99 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5709922 rs760381586 |
100 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA5709925 rs759450701 |
104 | L>M | No |
ClinGen ExAC gnomAD |
|
|
COSM1703135 rs764750125 CA5709926 |
106 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5709929 rs763733752 |
107 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs555249651 CA5709931 |
108 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA214685574 rs954806797 |
109 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 109 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140325655 CA5709933 |
110 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5709934 rs756592283 |
111 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs756592283 CA378506616 |
111 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199813258 CA5709935 |
112 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA214685587 rs376290985 |
116 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769062838 CA5709937 |
116 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1315774379 CA378506655 |
117 | V>G | No |
ClinGen gnomAD |
|
|
rs748343807 CA5709939 |
117 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5709940 rs770634242 |
118 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA378507942 rs1444264519 |
120 | G>D | No |
ClinGen gnomAD |
|
|
rs775422793 CA5709961 |
120 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs762815525 CA5709963 |
121 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs768188037 CA214688500 |
122 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs768188037 CA16621611 RCV000488338 |
122 | I>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs768188037 CA5709964 |
122 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs773865298 CA5709965 |
123 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5709967 rs767164448 |
124 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5709966 rs761418958 |
124 | P>S | No |
ClinGen ExAC gnomAD |
|
|
COSM2055012 rs141958329 CA5709969 |
125 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs375122330 CA5709970 |
126 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297140897 CA378508072 |
134 | M>I | No |
ClinGen TOPMed |
|
|
CA5709972 rs369120660 |
135 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378508086 rs1300012864 |
135 | L>R | No |
ClinGen gnomAD |
|
|
CA5709973 rs543423530 |
136 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378508116 rs1272660822 |
137 | A>G | No |
ClinGen gnomAD |
|
|
rs150240997 CA5709974 |
137 | A>P | No |
ClinGen ESP ExAC |
|
|
rs150240997 CA378508103 |
137 | A>T | No |
ClinGen ESP ExAC |
|
|
rs1272660822 CA378508114 |
137 | A>V | No |
ClinGen gnomAD |
|
|
CA378508121 rs1306286525 |
138 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378508156 rs1368370847 |
140 | G>A | No |
ClinGen TOPMed |
|
|
CA5709976 rs778044305 |
140 | G>S | No |
ClinGen ExAC |
|
|
CA5709977 rs747178392 |
141 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 142 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378508177 rs1478836622 |
142 | P>S | No |
ClinGen TOPMed |
|
|
rs755912451 CA5709979 |
144 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA378508204 rs755912451 |
144 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA214688564 rs563839644 |
145 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563839644 CA5709980 |
145 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3382690 rs757078093 CA5709982 |
147 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5709983 rs773770407 |
148 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1172781946 CA378508259 |
149 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs756449062 CA5709985 |
149 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5709984 rs756449062 |
149 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777087206 CA5709989 COSM1346046 |
153 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs760162039 CA5709990 |
154 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs765770714 CA5709991 |
155 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs147846434 CA5709992 |
156 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1054952800 CA214688627 |
158 | I>T | No |
ClinGen TOPMed |
|
|
rs1332018607 CA378508378 |
159 | L>F | No |
ClinGen gnomAD |
|
|
rs758520238 CA5709993 |
159 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764017425 CA378508390 |
161 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764017425 CA5709994 |
161 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs757426206 CA5709996 |
162 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378508443 rs754933928 |
165 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5709999 rs754933928 |
165 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115251364 COSM167684 CA5709998 |
165 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5710000 COSM1703136 rs146194900 |
167 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5710001 rs552800446 |
167 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771615431 CA5710003 |
170 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1589968525 CA378508540 |
173 | T>P | No |
ClinGen Ensembl |
|
|
rs547078514 CA5710004 |
174 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5710005 COSM202291 rs139101102 |
174 | R>H | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs568412343 CA378508565 |
175 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5710007 rs568412343 |
175 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548478370 CA5710006 |
175 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 176 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564992617 CA378508637 |
181 | C>S | No |
ClinGen Ensembl |
|
|
rs568389309 CA5710009 |
181 | C>Y | No |
ClinGen 1000Genomes ExAC |
|
|
CA5710010 rs1172781723 |
185 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs776070969 CA5710012 |
186 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs961129038 CA214688700 |
188 | K>N | No |
ClinGen TOPMed |
|
|
CA214688706 rs965585471 |
189 | K>I | No |
ClinGen Ensembl |
|
|
CA378508748 rs535857727 CA378508746 |
189 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372982639 CA5710019 |
190 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5710021 rs376977754 |
190 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA5710023 rs376977754 |
190 | P>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5710020 rs372982639 |
190 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs571170068 CA214688739 |
191 | D>N | No |
ClinGen Ensembl |
|
|
CA378508785 rs1589968568 |
192 | P>R | No |
ClinGen Ensembl |
|
|
CA378508780 rs1397355370 |
192 | P>S | No |
ClinGen gnomAD |
|
|
rs778504068 CA5710026 |
194 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA5710025 rs778504068 |
194 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5710029 rs777473803 |
195 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5710028 COSM1211564 rs777473803 |
195 | A>T | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5710030 rs770765805 |
196 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770765805 CA5710031 |
196 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770765805 CA378508848 |
196 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA214688759 rs363359 |
198 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_037522 CA5710034 RCV000886801 rs363359 |
198 | A>G | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1170976317 CA378508912 |
199 | V>D | No |
ClinGen TOPMed |
|
|
rs371222507 CA5710036 |
200 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374650107 CA5710037 |
200 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371222507 CA5710035 |
200 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304110810 CA378508943 |
201 | Q>R | No |
ClinGen gnomAD |
|
|
CA378508970 rs1332164495 |
202 | I>M | No |
ClinGen gnomAD |
|
|
rs767525145 CA5710040 |
203 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs750645285 CA5710041 |
205 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232173800 CA378509047 |
207 | E>A | No |
ClinGen gnomAD |
|
|
rs760766797 CA5710042 |
207 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5710045 rs758399840 |
211 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488059654 CA378509126 |
212 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1207824472 CA378509133 |
213 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA378509147 rs1199485346 |
214 | L>I | No |
ClinGen TOPMed |
|
|
CA378509169 rs777841499 |
215 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5710047 rs777841499 |
215 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA378509181 rs1180480188 |
216 | T>I | No |
ClinGen gnomAD |
|
|
rs751485230 CA5710048 |
216 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378509191 rs1377891907 |
217 | C>Y | No |
ClinGen gnomAD |
|
|
COSM683143 CA214688819 rs866402119 |
219 | S>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
COSM3720466 CA5710049 rs553050625 |
220 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA378509234 rs553050625 |
220 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5710050 rs377258890 |
220 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs553050625 CA214688822 |
220 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1384195126 CA378509243 |
221 | P>L | No |
ClinGen gnomAD |
|
|
rs1295646909 CA378509248 |
222 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378509272 rs1448863577 |
225 | M>T | No |
ClinGen TOPMed |
|
|
CA5710052 rs769311626 |
230 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs363315 CA5710053 VAR_037523 |
231 | S>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 231 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378509325 rs1447571740 |
232 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1589968624 CA378509320 |
232 | H>Y | No |
ClinGen Ensembl |
|
|
rs363360 RCV000962074 CA5710056 |
233 | A>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs363360 CA5710057 |
233 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5710054 rs749608744 |
233 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs363360 CA5710055 RCV000965155 VAR_037524 COSM1346048 |
233 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA378509373 rs1564992728 |
237 | Q>H | No |
ClinGen Ensembl |
|
|
CA378509377 rs1564992732 |
238 | N>D | No |
ClinGen Ensembl |
|
|
CA378509387 rs1473510683 |
238 | N>K | No |
ClinGen TOPMed |
|
|
CA378509390 rs1356987866 |
239 | T>A | No |
ClinGen gnomAD |
|
|
rs761005899 CA5710060 |
239 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761005899 CA5710061 |
239 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151190373 CA5710063 |
240 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139830072 CA5710064 |
242 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5710065 rs751579914 |
243 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1287708855 CA378509427 |
243 | P>S | No |
ClinGen TOPMed |
|
|
rs757214780 CA5710066 |
244 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1219319889 CA378509438 |
244 | P>S | No |
ClinGen TOPMed |
|
|
rs1167367942 CA378509454 |
245 | Q>R | No |
ClinGen gnomAD |
|
|
rs202105195 CA5710067 |
246 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755866541 CA5710069 |
247 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378509471 rs1456162168 |
247 | M>V | No |
ClinGen gnomAD |
|
|
rs748909703 CA5710071 |
249 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5710070 rs779555733 |
249 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336162132 CA378509532 |
251 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA214688860 rs1041002961 |
251 | N>Y | No |
ClinGen Ensembl |
|
|
CA5710072 COSM282099 rs149796761 |
252 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs3026042 COSM1504385 CA5710076 |
255 | E>* | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
VAR_037525 rs3026042 CA5710075 |
255 | E>K | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 256 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1165421981 CA378509646 |
262 | S>L | No |
ClinGen TOPMed |
|
|
rs1254846593 CA378509663 |
264 | S>T | No |
ClinGen gnomAD |
|
|
rs759794574 CA5710080 |
268 | N>K | No |
ClinGen ExAC |
|
|
rs1564992787 CA378509723 |
269 | L>V | No |
ClinGen Ensembl |
|
|
rs141547760 CA5710081 |
272 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1183200298 CA378509768 |
273 | G>A | No |
ClinGen gnomAD |
|
|
CA214688903 rs1021103399 |
274 | Q>* | No |
ClinGen TOPMed |
|
|
rs774268878 CA5710082 |
275 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1477728649 CA378509790 |
275 | Q>R | No |
ClinGen gnomAD |
|
|
rs761885569 CA5710083 |
276 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761885569 CA378509796 |
276 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 277 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267602384 CA214688925 |
282 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs267602384 CA5710087 |
282 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA214688918 rs1001077682 |
282 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378509903 rs1356799341 |
285 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5710089 rs369130428 |
288 | L>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376041344 CA5710088 |
288 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA214688941 rs376041344 |
288 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754574739 CA5710090 |
289 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA378509996 COSM3414728 rs1300030445 |
291 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs748480981 CA5710092 |
292 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559376330 CA5710093 |
293 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5710094 rs769564486 |
295 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378510088 rs1487757211 |
299 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA378510083 rs1487757211 |
299 | A>T | No |
ClinGen gnomAD |
|
|
CA5710095 rs747483367 |
301 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1216974588 CA378510137 |
304 | W>R | No |
ClinGen TOPMed |
|
|
rs1265729664 CA378510154 |
305 | E>K | No |
ClinGen gnomAD |
|
|
CA214688988 rs1034661804 |
308 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs145335768 CA378510191 |
308 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145335768 CA5710098 |
308 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418032745 CA378510274 |
311 | E>A | No |
ClinGen gnomAD |
|
|
rs774358745 CA5710100 |
311 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA214689003 rs954177406 |
313 | A>G | No |
ClinGen TOPMed |
|
|
CA378510316 rs1362176137 |
313 | A>T | No |
ClinGen gnomAD |
|
|
rs1277878862 CA378510357 |
315 | Y>S | No |
ClinGen gnomAD |
|
| TCGA novel | 316 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5710102 rs771838477 |
317 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378510406 rs1292919918 |
318 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378510421 rs1365392725 |
319 | V>A | No |
ClinGen gnomAD |
|
|
CA378510446 rs1564992856 |
321 | L>I | No |
ClinGen Ensembl |
|
|
rs773024059 CA378510473 |
322 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773024059 CA5710103 |
322 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5710106 rs753322636 |
323 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5710108 rs764864752 |
324 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA214689023 rs368800855 |
324 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5710107 rs368800855 |
324 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758767008 CA5710110 |
327 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5710111 rs778160917 |
328 | D>E | No |
ClinGen ExAC |
|
| TCGA novel | 328 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 330 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191858756 CA378510717 |
331 | L>S | No |
ClinGen gnomAD |
|
|
CA5710114 rs548343681 |
333 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5710113 rs757761673 |
333 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5710115 rs745940715 |
334 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA5710117 rs147749657 |
336 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163804459 CA378510760 |
337 | F>C | No |
ClinGen gnomAD |
|
|
rs780440795 CA5710118 |
337 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 338 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 340 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5710121 rs773008291 |
342 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770869540 CA5710123 |
344 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs760575756 CA5710122 |
344 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA378510810 rs1489637943 |
345 | I>F | No |
ClinGen TOPMed |
|
|
CA5710125 rs12247136 VAR_037526 |
346 | V>I | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764660644 CA5710126 |
348 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA378510869 rs1238070836 |
353 | I>S | No |
ClinGen gnomAD |
|
|
rs1222901550 CA378510866 |
353 | I>V | No |
ClinGen gnomAD |
|
|
CA378510876 rs1456541065 COSM139863 |
354 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1409372228 CA378510886 |
356 | K>E | No |
ClinGen gnomAD |
|
|
CA378510889 rs1421357436 |
356 | K>R | No |
ClinGen gnomAD |
|
|
rs1458288439 CA378510921 |
360 | N>K | No |
ClinGen TOPMed |
|
|
CA5710128 rs762619816 |
362 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764416904 CA214689058 |
363 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764416904 CA5710129 |
363 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041035507 CA214689069 |
366 | Y>* | No |
ClinGen gnomAD |
|
|
rs1589968824 CA378510969 |
368 | N>D | No |
ClinGen Ensembl |
|
|
rs751924178 COSM1603025 CA5710130 |
368 | N>K | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA214689073 rs373436792 |
370 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 371 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757773431 CA5710132 |
371 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM325591 CA5710133 rs143365824 COSM915241 |
372 | F>L | lung endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs750906382 CA5710134 |
373 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1332789851 CA378511013 |
375 | K>Q | No |
ClinGen gnomAD |
|
|
rs937673519 CA214689092 |
377 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780238153 CA5710136 |
379 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 382 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q7Z418
[MIM: 613656]: Migraine with or without aura 13 (MGR13)
A form of migraine transmitted in an autosomal dominant pattern. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269|PubMed:20871611}. Note=The disease is caused by variants affecting the gene represented in this entry. Susceptibility to migraine has been shown to be conferred by a frameshift mutation that segregates with the disorder in a large multigenerational family. Migraine was associated with sensitivity to lights, sounds, and smells, as well as nausea and occasional vomiting. Triggers included fatigue, alcohol and bright lights. Mutations in KCNK18 are a rare cause of migraine.
Without disease ID
- A form of migraine transmitted in an autosomal dominant pattern. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. The two major subtypes are common migraine (migraine without aura) and classic migraine (migraine with aura). Classic migraine is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking. {ECO:0000269|PubMed:20871611}. Note=The disease is caused by variants affecting the gene represented in this entry. Susceptibility to migraine has been shown to be conferred by a frameshift mutation that segregates with the disorder in a large multigenerational family. Migraine was associated with sensitivity to lights, sounds, and smells, as well as nausea and occasional vomiting. Triggers included fatigue, alcohol and bright lights. Mutations in KCNK18 are a rare cause of migraine.
2 regional properties for Q7Z418
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Potassium channel domain | 100 - 155 | IPR013099-1 |
| domain | Potassium channel domain | 290 - 362 | IPR013099-2 |
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 |
|---|---|
| calcium-activated potassium channel activity | Enables the calcium concentration-regulatable energy-independent passage of potassium ions across a lipid bilayer down a concentration gradient. |
| 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 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. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to pH | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution. |
| potassium ion export across plasma membrane | The directed movement of potassium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
| 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. |
| 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 |
|---|---|---|---|---|
| Q96T55 | KCNK16 | Potassium channel subfamily K member 16 | 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 |
| MEVSGHPQAR | RCCPEALGKL | FPGLCFLCFL | VTYALVGAVV | FSAIEDGQVL | VAADDGEFEK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLEELCRILN | CSETVVEDRK | QDLQGHLQKV | KPQWFNRTTH | WSFLSSLFFC | CTVFSTVGYG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YIYPVTRLGK | YLCMLYALFG | IPLMFLVLTD | TGDILATILS | TSYNRFRKFP | FFTRPLLSKW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CPKSLFKKKP | DPKPADEAVP | QIIISAEELP | GPKLGTCPSR | PSCSMELFER | SHALEKQNTL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QLPPQAMERS | NSCPELVLGR | LSYSIISNLD | EVGQQVERLD | IPLPIIALIV | FAYISCAAAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LPFWETQLDF | ENAFYFCFVT | LTTIGFGDTV | LEHPNFFLFF | SIYIIVGMEI | VFIAFKLVQN |
| 370 | 380 | ||||
| RLIDIYKNVM | LFFAKGKFYH | LVKK |