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

9 papers

NM_002241.5

p.L218F

c.652C>T

Surrounding Variants

1 paper

NM_002241.5

p.L217P

c.650T>C

1 paper

NM_002241.5

p.Q219*

c.655C>T

1 paper

NM_002241.5

p.L217V

c.649C>G

1 paper

NM_002241.5

p.T220S

c.658A>T

1 paper

NM_002241.5

p.T220S

c.659C>G

1 paper

NM_002241.5

p.G215G

c.645A>G

1 paper

NM_002241.5

p.I209_G215insFs

c.627_643dup17

1 paper

NM_002241.5

p.T220T

c.660C>T

1 paper

NM_002241.5

p.G215R

c.643G>A

1 paper

NM_002241.5

p.H221Q

c.663C>G

1 paper

NM_002241.5

p.H221Q

c.663C>A

1 paper

NM_002241.5

p.T214P

c.640A>C