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.C185R

c.553T>C

Surrounding Variants

2 papers

NM_000890.5

p.C185F

c.554G>T

1 paper

NM_000890.5

p.C185*

c.555C>A

4 papers

NM_000890.5

p.G184E

c.551G>A

1 paper

NM_000890.5

p.M186I

c.558G>A

1 paper

NM_000890.5

p.M186I

c.558G>C

1 paper

NM_000890.5

p.M186I

c.558G>T

4 papers

NM_000890.5

p.M182I

c.546G>A

4 papers

NM_000890.5

p.M182I

c.546G>C

4 papers

NM_000890.5

p.M182I

c.546G>T

1 paper

NM_000890.5

p.M182T

c.545T>C

1 paper

NM_000890.5

p.V188I

c.562G>A

1 paper

NM_000890.5

p.V188L

c.562G>C