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.N10K

c.30C>G

Surrounding Variants

1 paper

NM_000890.5

p.N10K

c.30C>A

1 paper

NM_000890.5

p.N7T

c.20A>C

1 paper

NM_000890.5

p.E14V

c.41A>T

1 paper

NM_000890.5

p.I15L

c.43A>C

1 paper

NM_000890.5

p.R6K

c.17G>A

1 paper

NM_000890.5

p.R6M

c.17G>T

1 paper

NM_000890.5

p.R6W

c.16A>T

1 paper

NM_000890.5

p.G16E

c.47G>A

1 paper

NM_000890.5

p.D4V

c.11A>T

1 paper

NM_000890.5

p.V17L

c.49G>C

3 papers

NM_000890.5

p.D4N

c.10G>A

1 paper

NM_000890.5

p.V17D

c.50T>A