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.M210L

c.628A>T

Surrounding Variants

1 paper

NM_000890.5

p.M210L

c.628A>C

1 paper

NM_000890.5

p.M210R

c.629T>G

9 papers

NM_000890.5

p.M210I

c.630G>A

9 papers

NM_000890.5

p.M210I

c.630G>C

9 papers

NM_000890.5

p.M210I

c.630G>T

4 papers

NM_000890.5

p.R211W

c.631C>T

1 paper

NM_000890.5

p.S209T

c.625T>A

1 paper

NM_000890.5

p.S209P

c.625T>C

1 paper

NM_000890.5

p.S209A

c.625T>G

3 papers

NM_000890.5

p.R211Q

c.632G>A

1 paper

NM_000890.5

p.I208T

c.623T>C

1 paper

NM_000890.5

p.I208V

c.622A>G