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.E310K

c.928G>A

Surrounding Variants

1 paper

NM_002241.5

p.E310Q

c.928G>C

2 papers

NM_002241.5

p.Y309*

c.927C>G

2 papers

NM_002241.5

p.Y309*

c.927C>A

1 paper

NM_002241.5

p.G308D

c.923G>A

1 paper

NM_002241.5

p.G308R

c.922G>C

1 paper

NM_002241.5

p.T312A

c.934A>G

1 paper

NM_002241.5

p.P313S

c.937C>T

1 paper

NM_002241.5

p.A314T

c.940G>A

1 paper

NM_002241.5

p.E304del1

c.910_911delCTC

1 paper

NM_002241.5

p.S299_E304delFs

c.897_912del16

1 paper

NM_002241.5

p.E303Q

c.907G>C

2 papers

NM_002241.5

p.E303K

c.907G>A