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

7 papers

NM_002241.5

p.I60M

c.180T>G

Surrounding Variants

13 papers

NM_002241.5

p.I60T

c.179T>C

1 paper

NM_002241.5

p.T58I

c.173C>T

1 paper

NM_002241.5

p.Q63K

c.187C>A

2 papers

NM_002241.5

p.T58A

c.172A>G

17 papers

NM_002241.5

p.T57I

c.170C>T

1 paper

NM_002241.5

p.W64*

c.191G>A

1 paper

NM_002241.5

p.W64*

c.192G>A

1 paper

NM_002241.5

p.W56*

c.168G>A

3 papers

NM_002241.5

p.F59_W64delFs

c.176_191del16

1 paper

NM_002241.5

p.W56L

c.167G>T

22 papers

NM_002241.5

p.R65C

c.193C>T

43 papers

NM_002241.5

p.R65P

c.194G>C