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

1 paper

NM_002241.5

p.Y135C

c.404A>G

Surrounding Variants

1 paper

NM_002241.5

p.I136F

c.406A>T

1 paper

NM_002241.5

p.I136N

c.407T>A

1 paper

NM_002241.5

p.R134H

c.401G>A

1 paper

NM_002241.5

p.R134G

c.400C>G

2 papers

NM_002241.5

p.R134S

c.400C>A

1 paper

NM_002241.5

p.F133Y

c.398T>A

1 paper

NM_002241.5

p.F133I

c.397T>A

1 paper

NM_002241.5

p.G132S

c.394G>A

1 paper

NM_002241.5

p.Y131C

c.392A>G

31 papers

NM_002241.5

p.C140R

c.418T>C

1 paper

NM_002241.5

p.C140Y

c.419G>A

1 paper

NM_002241.5

p.G130R

c.388G>C