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.D21H

c.61G>C

Surrounding Variants

1 paper

NM_000890.5

p.D21E

c.63C>A

1 paper

NM_000890.5

p.D21E

c.63C>G

1 paper

NM_000890.5

p.P22T

c.64C>A

1 paper

NM_000890.5

p.P22H

c.65C>A

1 paper

NM_000890.5

p.P19S

c.55C>T

1 paper

NM_000890.5

p.T18I

c.53C>T

1 paper

NM_000890.5

p.K23N

c.69G>C

1 paper

NM_000890.5

p.K23N

c.69G>T

1 paper

NM_000890.5

p.V17D

c.50T>A

1 paper

NM_000890.5

p.V17_P19delFs

c.51_57del7

1 paper

NM_000890.5

p.V17L

c.49G>C

1 paper

NM_000890.5

p.I25N

c.74T>A