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.R267C

c.799C>T

Surrounding Variants

1 paper

NM_000890.5

p.R267H

c.800G>A

1 paper

NM_000890.5

p.D266V

c.797A>T

2 papers

NM_000890.5

p.L268I

c.802C>A

3 papers

NM_000890.5

p.D266N

c.796G>A

2 papers

NM_000890.5

p.D265N

c.793G>A

1 paper

NM_000890.5

p.G264G

c.792C>T

3 papers

NM_000890.5

p.T263M

c.788C>T

8 papers

NM_000890.5

p.L270L

c.810T>G

1 paper

NM_000890.5

p.V271M

c.811G>A

2 papers

NM_000890.5

p.D262G

c.785A>G

1 paper

NM_000890.5

p.S272P

c.814T>C

1 paper

NM_000890.5

p.F261L

c.783T>A