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.L208I

c.622C>A

Surrounding Variants

1 paper

NM_002241.5

p.L208F

c.622C>T

1 paper

NM_002241.5

p.L208insFs

c.623_624insA

1 paper

NM_002241.5

p.L208P

c.623T>C

1 paper

NM_002241.5

p.L207F

c.619C>T

10 papers

NM_002241.5

p.I209T

c.626T>C

7 papers

NM_002241.5

p.I209M

c.627T>G

1 paper

NM_002241.5

p.G210S

c.628G>A

1 paper

NM_002241.5

p.C211F

c.632G>T

9 papers

NM_002241.5

p.R204H

c.611G>A

1 paper

NM_002241.5

p.R204C

c.610C>T

1 paper

NM_002241.5

p.M203I

c.609G>T

1 paper

NM_002241.5

p.M203I

c.609G>C