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

1–12 of 511 variants

221 papers

NM_000890.5

p.G151R

c.451G>A

221 papers

NM_000890.5

p.G151R

c.451G>C

182 papers

NM_000890.5

p.L168R

c.503T>G

144 papers

NM_000890.5

p.T158A

c.472A>G

85 papers

NM_000890.5

p.G151E

c.452G>A

70 papers

NM_000890.5

p.H295R

c.884A>G

65 papers

NM_000890.5

p.E145Q

c.433G>C

46 papers

NM_000890.5

p.I157S

c.470T>G

44 papers

NM_000890.5

p.Y152C

c.455A>G

41 papers

NM_000890.5

p.S143T

c.427T>A

28 papers

NM_000890.5

p.G247R

c.739G>A

28 papers

NM_000890.5

p.G247R

c.739G>C