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.P339S

c.1015C>T

Surrounding Variants

2 papers

NM_002241.5

p.P339T

c.1015C>A

1 paper

NM_002241.5

p.S338C

c.1013C>G

1 paper

NM_002241.5

p.S338A

c.1012T>G

1 paper

NM_002241.5

p.G341R

c.1021G>C

1 paper

NM_002241.5

p.V336_A337insFs

c.1008_1009insT

1 paper

NM_002241.5

p.G341insFs

c.1022_1023insC

2 papers

NM_002241.5

p.V336L

c.1006G>T

2 papers

NM_002241.5

p.V336L

c.1006G>C

2 papers

NM_002241.5

p.V336M

c.1006G>A

1 paper

NM_002241.5

p.K335I

c.1004A>T

1 paper

NM_002241.5

p.R343C

c.1027C>T

2 papers

NM_002241.5

p.R343H

c.1028G>A