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

10 papers

NM_000890.5

p.F154C

c.461T>G

Surrounding Variants

1 paper

NM_000890.5

p.R155*

c.463C>T

2 papers

NM_000890.5

p.R155Q

c.464G>A

1 paper

NM_000890.5

p.R155L

c.464G>T

1 paper

NM_000890.5

p.V156I

c.466G>A

27 papers

NM_000890.5

p.I157del1

c.469_470delATC

1 paper

NM_000890.5

p.G153_G164ins4

c.457_492dup36

44 papers

NM_000890.5

p.Y152C

c.455A>G

1 paper

NM_000890.5

p.I157_K160del0

c.470_478del9

1 paper

NM_000890.5

p.Y152N

c.454T>A

1 paper

NM_000890.5

p.G151G

c.453G>A

85 papers

NM_000890.5

p.G151E

c.452G>A

1 paper

NM_000890.5

p.G151A

c.452G>C