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

8 papers

NM_002241.5

p.L97Q

c.290T>A

Surrounding Variants

1 paper

NM_002241.5

p.E98K

c.292G>A

1 paper

NM_002241.5

p.L99P

c.296T>C

1 paper

NM_002241.5

p.D95A

c.284A>C

1 paper

NM_002241.5

p.G94W

c.280G>T

1 paper

NM_002241.5

p.H93delFs

c.279delA

1 paper

NM_002241.5

p.D100E

c.300C>G

1 paper

NM_002241.5

p.D100E

c.300C>A

1 paper

NM_002241.5

p.H93Q

c.279T>A

1 paper

NM_002241.5

p.P101S

c.301C>T

3 papers

NM_002241.5

p.P101T

c.301C>A

2 papers

NM_002241.5

p.P101L

c.302C>T

1 paper

NM_002241.5

p.H93L

c.278A>T