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.Q233H

c.699G>T

Surrounding Variants

1 paper

NM_002241.5

p.Q233H

c.699G>C

6 papers

NM_002241.5

p.N232fs

c.694_695fs

1 paper

NM_002241.5

p.N232D

c.694A>G

4 papers

NM_002241.5

p.N232insFs

c.694_695insC

1 paper

NM_002241.5

p.L231L

c.693C>A

1 paper

NM_002241.5

p.L231H

c.692T>A

2 papers

NM_002241.5

p.V236G

c.707T>G

1 paper

NM_002241.5

p.R230L

c.689G>T

2 papers

NM_002241.5

p.R230Q

c.689G>A

1 paper

NM_002241.5

p.R230W

c.688C>T

1 paper

NM_002241.5

p.R230R

c.688C>A

1 paper

NM_002241.5

p.I229F

c.685A>T