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.Y66C

c.197A>G

Surrounding Variants

1 paper

NM_002241.5

p.K67E

c.199A>G

3 papers

NM_002241.5

p.K67Q

c.199A>C

43 papers

NM_002241.5

p.R65P

c.194G>C

3 papers

NM_002241.5

p.R65H

c.194G>A

6 papers

NM_002241.5

p.K67M

c.200A>T

22 papers

NM_002241.5

p.R65C

c.193C>T

1 paper

NM_002241.5

p.W64*

c.192G>A

3 papers

NM_002241.5

p.F59_W64delFs

c.176_191del16

8 papers

NM_002241.5

p.L68P

c.203T>C

1 paper

NM_002241.5

p.W64*

c.191G>A

1 paper

NM_002241.5

p.Q63K

c.187C>A

1 paper

NM_002241.5

p.L70F

c.208C>T