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.E279K

c.835G>A

Surrounding Variants

3 papers

NM_000890.5

p.H278Q

c.834T>A

7 papers

NM_000890.5

p.H278H

c.834T>C

3 papers

NM_000890.5

p.H278Q

c.834T>G

1 paper

NM_000890.5

p.E279E

c.837G>A

1 paper

NM_000890.5

p.S277P

c.829T>C

1 paper

NM_000890.5

p.I276T

c.827T>C

1 paper

NM_000890.5

p.Q282K

c.844C>A

26 papers

NM_000890.5

p.Q282E

c.844C>G

1 paper

NM_000890.5

p.I275I

c.825C>T

1 paper

NM_000890.5

p.P285T

c.853C>A

1 paper

NM_000890.5

p.P273S

c.817C>T

1 paper

NM_000890.5

p.P285R

c.854C>G