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.A118G

c.353C>G

Surrounding Variants

1 paper

NM_002241.5

p.A118T

c.352G>A

1 paper

NM_002241.5

p.A118insFs

c.354dupC

1 paper

NM_002241.5

p.A118delFs

c.354delG

5 papers

NM_002241.5

p.F119fs

c.355_356fs

1 paper

NM_002241.5

p.G117E

c.350G>A

1 paper

NM_002241.5

p.G117insFs

c.349_350insC

1 paper

NM_002241.5

p.T114R

c.341C>G

1 paper

NM_002241.5

p.S122S

c.366C>T

2 papers

NM_002241.5

p.L123F

c.367C>T

1 paper

NM_002241.5

p.L123V

c.367C>G

1 paper

NM_002241.5

p.E124*

c.370G>T

2 papers

NM_002241.5

p.V112G

c.335T>G