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

2 papers

NM_002241.5

p.L147P

c.440T>C

Surrounding Variants

2 papers

NM_002241.5

p.L146F

c.436C>T

1 paper

NM_002241.5

p.V145G

c.434T>G

1 paper

NM_002241.5

p.V145L

c.433G>T

1 paper

NM_002241.5

p.V145L

c.433G>C

1 paper

NM_002241.5

p.V145M

c.433G>A

1 paper

NM_002241.5

p.A149del1

c.445_447delGGC

1 paper

NM_002241.5

p.A149_Q150del1

c.447_449delTGG

1 paper

NM_002241.5

p.I144V

c.430A>G

1 paper

NM_002241.5

p.L151M

c.451C>A

1 paper

NM_002241.5

p.A143T

c.427G>A

1 paper

NM_002241.5

p.V152A

c.455T>C

1 paper

NM_002241.5

p.L142V

c.424C>G