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.F165V

c.493T>G

Surrounding Variants

25 papers

NM_002241.5

p.T164I

c.491C>T

1 paper

NM_002241.5

p.F165delFs

c.494delA

1 paper

NM_002241.5

p.L166V

c.496C>G

6 papers

NM_002241.5

p.L166Q

c.497T>A

6 papers

NM_002241.5

p.G163D

c.488G>A

1 paper

NM_002241.5

p.G163S

c.487G>A

33 papers

NM_002241.5

p.A167V

c.500C>T

1 paper

NM_002241.5

p.K168N

c.504G>T

2 papers

NM_002241.5

p.K168_I169insFs

c.504_505ins4

1 paper

NM_002241.5

p.K168N

c.504G>C

2 papers

NM_002241.5

p.I169T

c.506T>C

1 paper

NM_002241.5

p.F160Y

c.479T>A