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.V91delFs

c.272delA

Surrounding Variants

3 papers

NM_002241.5

p.V91fs

c.271_272fs

1 paper

NM_002241.5

p.V91V

c.273G>C

1 paper

NM_002241.5

p.A92S

c.274G>T

1 paper

NM_002241.5

p.A92T

c.274G>A

4 papers

NM_002241.5

p.V91fs

c.271_272fs

4 papers

NM_002241.5

p.A90V

c.269C>T

1 paper

NM_002241.5

p.H93L

c.278A>T

1 paper

NM_002241.5

p.H93R

c.278A>G

1 paper

NM_002241.5

p.H93Q

c.279T>A

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.L88P

c.263T>C