Varaico: Literature-Extracted Genetic Variants

KCNJ6

216 papers

RefSeq Summary

This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassi...

Pfam Domains

IRKaa 57–196UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 203–375UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 6

HGNC Previous Symbol

KCNJ7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002240.5

p.R42G

c.124A>G

Surrounding Variants

1 paper

NM_002240.5

p.R42S

c.126A>T

1 paper

NM_002240.5

p.R42R

c.126A>G

1 paper

NM_002240.5

p.R42S

c.126A>C

1 paper

NM_002240.5

p.H43Y

c.127C>T

1 paper

NM_002240.5

p.H43D

c.127C>G

1 paper

NM_002240.5

p.D38Y

c.112G>T

1 paper

NM_002240.5

p.R37T

c.110G>C

1 paper

NM_002240.5

p.D47N

c.139G>A

1 paper

NM_002240.5

p.R48W

c.142C>T

1 paper

NM_002240.5

p.R48Q

c.143G>A

1 paper

NM_002240.5

p.P33S

c.97C>T

2 papers

NM_002240.5

p.I53V

c.157A>G