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

2 papers

NM_002241.5

p.T293I

c.878C>T

Surrounding Variants

2 papers

NM_002241.5

p.C294Y

c.881G>A

1 paper

NM_002241.5

p.Q295*

c.883C>T

1 paper

NM_002241.5

p.V296M

c.886G>A

9 papers

NM_002241.5

p.T290A

c.868A>G

34 papers

NM_002241.5

p.R297C

c.889C>T

1 paper

NM_002241.5

p.V296delFs

c.888delC

2 papers

NM_002241.5

p.R297H

c.890G>A

1 paper

NM_002241.5

p.S289F

c.866C>T

1 paper

NM_002241.5

p.T298A

c.892A>G

1 paper

NM_002241.5

p.S299Y

c.896C>A

2 papers

NM_002241.5

p.T286R

c.857C>G

1 paper

NM_002241.5

p.T286K

c.857C>A