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

1 paper

NM_000890.5

p.C161W

c.483T>G

Surrounding Variants

1 paper

NM_000890.5

p.K160K

c.480G>A

1 paper

NM_000890.5

p.E163K

c.487G>A

1 paper

NM_000890.5

p.G164insFs

c.492dupG

1 paper

NM_000890.5

p.E159_K160ins1

c.477_478insATT

1 paper

NM_000890.5

p.E159G

c.476A>G

1 paper

NM_000890.5

p.G164W

c.490G>T

2 papers

NM_000890.5

p.E159Q

c.475G>C

1 paper

NM_000890.5

p.G164A

c.491G>C

1 paper

NM_000890.5

p.I165F

c.493A>T

1 paper

NM_000890.5

p.T158R

c.473C>G

144 papers

NM_000890.5

p.T158A

c.472A>G

1 paper

NM_000890.5

p.T158S

c.472A>T