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.G321S

c.961G>A

Surrounding Variants

7 papers

NM_002241.5

p.Y323H

c.967T>C

2 papers

NM_002241.5

p.G321_K322del2

c.961_965del6

1 paper

NM_002241.5

p.I324L

c.970A>T

1 paper

NM_002241.5

p.I324R

c.971T>G

1 paper

NM_002241.5

p.A325S

c.973G>T

1 paper

NM_002241.5

p.A325insFs

c.974dupC

1 paper

NM_002241.5

p.F327I

c.979T>A

1 paper

NM_002241.5

p.F327C

c.980T>G

1 paper

NM_002241.5

p.A314T

c.940G>A

1 paper

NM_002241.5

p.S328G

c.982A>G

1 paper

NM_002241.5

p.S328R

c.982A>C

1 paper

NM_002241.5

p.S328T

c.983G>C