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.T74I

c.221C>T

Surrounding Variants

2 papers

NM_002241.5

p.T74delFs

c.220delT

2 papers

NM_002241.5

p.T74A

c.220A>G

16 papers

NM_002241.5

p.F75L

c.223T>C

15 papers

NM_002241.5

p.F75C

c.224T>G

1 paper

NM_002241.5

p.A73V

c.218C>T

17 papers

NM_002241.5

p.F75L

c.225T>G

16 papers

NM_002241.5

p.F75L

c.225T>A

1 paper

NM_002241.5

p.A73T

c.217G>A

1 paper

NM_002241.5

p.A76V

c.227C>T

1 paper

NM_002241.5

p.S72F

c.215C>T

31 papers

NM_002241.5

p.G77R

c.229G>C

1 paper

NM_002241.5

p.G77delins

c.230_231delinsAA