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.R40*

c.118A>T

Surrounding Variants

1 paper

NM_002241.5

p.R40G

c.118A>G

1 paper

NM_002241.5

p.V39delFs

c.115delC

2 papers

NM_002241.5

p.V39M

c.115G>A

2 papers

NM_002241.5

p.E42K

c.124G>A

1 paper

NM_002241.5

p.N38Y

c.112A>T

1 paper

NM_002241.5

p.N38D

c.112A>G

1 paper

NM_002241.5

p.S37insFs

c.109dupA

1 paper

NM_002241.5

p.R36L

c.107G>T

1 paper

NM_002241.5

p.R36H

c.107G>A

4 papers

NM_002241.5

p.R36C

c.106C>T

1 paper

NM_002241.5

p.H43_I44insFs

c.129_130insC

1 paper

NM_002241.5

p.A45T

c.133G>A