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.A180P

c.538G>C

Surrounding Variants

4 papers

NM_000890.5

p.N179S

c.536A>G

3 papers

NM_000890.5

p.N179D

c.535A>G

5 papers

NM_000890.5

p.V178I

c.532G>A

1 paper

NM_000890.5

p.M182T

c.545T>C

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.I177T

c.530T>C

1 paper

NM_000890.5

p.I177V

c.529A>G

1 paper

NM_000890.5

p.S176C

c.527C>G

1 paper

NM_000890.5

p.S176F

c.527C>T

8 papers

NM_000890.5

p.S176P

c.526T>C