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.D245E

c.735C>A

Surrounding Variants

1 paper

NM_002241.5

p.D245E

c.735C>G

2 papers

NM_002241.5

p.D245A

c.734A>C

1 paper

NM_002241.5

p.F248L

c.742T>C

1 paper

NM_002241.5

p.F248L

c.744C>G

1 paper

NM_002241.5

p.F248L

c.744C>A

1 paper

NM_002241.5

p.T242I

c.725C>T

1 paper

NM_002241.5

p.T242A

c.724A>G

2 papers

NM_002241.5

p.D241A

c.722A>C

2 papers

NM_002241.5

p.V240A

c.719T>C

1 paper

NM_002241.5

p.V240L

c.718G>T

1 paper

NM_002241.5

p.V240L

c.718G>C

4 papers

NM_002241.5

p.P252R

c.755C>G