Varaico: Literature-Extracted Genetic Variants

KCNJ10

350 papers

RefSeq Summary

This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded pr...

Pfam Domains

IRKaa 31–172UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 179–349UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 10

HGNC Alias Symbols

Kir4.1; Kir1.2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_002241.5

p.P194H

c.581C>A

Surrounding Variants

1 paper

NM_002241.5

p.P194S

c.580C>T

1 paper

NM_002241.5

p.C195R

c.583T>C

1 paper

NM_002241.5

p.C195*

c.585C>A

1 paper

NM_002241.5

p.L196H

c.587T>A

2 papers

NM_002241.5

p.I198S

c.593T>G

1 paper

NM_002241.5

p.H190R

c.569A>G

1 paper

NM_002241.5

p.H190delFs

c.568delG

28 papers

NM_002241.5

p.R199*

c.595C>T

3 papers

NM_002241.5

p.R199Q

c.596G>A

1 paper

NM_002241.5

p.A188S

c.562G>T

11 papers

NM_002241.5

p.A201T

c.601G>A

2 papers

NM_002241.5

p.V186A

c.557T>C