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.R27Q

c.80G>A

Surrounding Variants

2 papers

NM_002241.5

p.R27W

c.79C>T

2 papers

NM_002241.5

p.R28W

c.82C>T

2 papers

NM_002241.5

p.R28Q

c.83G>A

3 papers

NM_002241.5

p.R26*

c.76C>T

1 paper

NM_002241.5

p.R26G

c.76C>G

2 papers

NM_002241.5

p.I25K

c.74T>A

1 paper

NM_002241.5

p.I25L

c.73A>T

1 paper

NM_002241.5

p.I25V

c.73A>G

1 paper

NM_002241.5

p.V30F

c.88G>T

1 paper

NM_002241.5

p.G24E

c.71G>A

1 paper

NM_002241.5

p.P23Q

c.68C>A

1 paper

NM_002241.5

p.M21T

c.62T>C