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.V301D

c.902T>A

Surrounding Variants

2 papers

NM_000890.5

p.V302M

c.904G>A

1 paper

NM_000890.5

p.E300A

c.899A>C

2 papers

NM_000890.5

p.V303I

c.907G>A

1 paper

NM_000890.5

p.F299S

c.896T>C

1 paper

NM_000890.5

p.I304_V309del6

c.910_926del18

2 papers

NM_000890.5

p.E298D

c.894G>C

2 papers

NM_000890.5

p.E298D

c.894G>T

2 papers

NM_000890.5

p.E298A

c.893A>C

1 paper

NM_000890.5

p.E306delFs

c.916delG

70 papers

NM_000890.5

p.H295R

c.884A>G

2 papers

NM_000890.5

p.M308R

c.923T>G

1 paper

NM_000890.5

p.Q293R

c.878A>G