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.S125S

c.375C>A

Surrounding Variants

1 paper

NM_002241.5

p.Q126*

c.376C>T

2 papers

NM_002241.5

p.T127A

c.379A>G

1 paper

NM_002241.5

p.E124*

c.370G>T

3 papers

NM_002241.5

p.T128A

c.382A>G

2 papers

NM_002241.5

p.L123F

c.367C>T

1 paper

NM_002241.5

p.L123V

c.367C>G

1 paper

NM_002241.5

p.S122S

c.366C>T

1 paper

NM_002241.5

p.I129F

c.385A>T

7 papers

NM_002241.5

p.I129V

c.385A>G

2 papers

NM_002241.5

p.I129N

c.386T>A

1 paper

NM_002241.5

p.G130R

c.388G>C

1 paper

NM_002241.5

p.Y131C

c.392A>G