Varaico: Literature-Extracted Genetic Variants

KCNJ5

663 papers

RefSeq Summary

This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a s...

Pfam Domains

IRKaa 54–193UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 200–372UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 5

HGNC Alias Symbols

Kir3.4; KATP1; GIRK4; LQT13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

221 papers

NM_000890.5

p.G151R

c.451G>C

Surrounding Variants

221 papers

NM_000890.5

p.G151R

c.451G>A

85 papers

NM_000890.5

p.G151E

c.452G>A

1 paper

NM_000890.5

p.G151A

c.452G>C

3 papers

NM_000890.5

p.I150_G151ins1

c.450_451insATG

1 paper

NM_000890.5

p.G151G

c.453G>A

1 paper

NM_000890.5

p.I150T

c.449T>C

1 paper

NM_000890.5

p.I150ins3

c.449_450ins9

1 paper

NM_000890.5

p.G151ins1

c.451_452insATG

3 papers

NM_000890.5

p.G151_G153del0

c.453_458del6

1 paper

NM_000890.5

p.I150V

c.448A>G

1 paper

NM_000890.5

p.Y152N

c.454T>A

44 papers

NM_000890.5

p.Y152C

c.455A>G