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

2 papers

NM_000890.5

p.S75N

c.224G>A

Surrounding Variants

2 papers

NM_000890.5

p.S75T

c.224G>C

1 paper

NM_000890.5

p.S75C

c.223A>T

1 paper

NM_000890.5

p.D76N

c.226G>A

3 papers

NM_000890.5

p.L77I

c.229C>A

1 paper

NM_000890.5

p.R72Q

c.215G>A

1 paper

NM_000890.5

p.R72P

c.215G>C

1 paper

NM_000890.5

p.R72W

c.214C>T

1 paper

NM_000890.5

p.T79A

c.235A>G

1 paper

NM_000890.5

p.T70N

c.209C>A

1 paper

NM_000890.5

p.T70A

c.208A>G

1 paper

NM_000890.5

p.E69D

c.207G>C

1 paper

NM_000890.5

p.E69D

c.207G>T