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

1 paper

NM_002240.5

p.I95T

c.284T>C

Surrounding Variants

1 paper

NM_002240.5

p.I95insFs

c.283_284insGT

1 paper

NM_002240.5

p.F96Y

c.287T>A

1 paper

NM_002240.5

p.V97F

c.289G>T

1 paper

NM_002240.5

p.V99F

c.295G>T

2 papers

NM_002240.5

p.V99I

c.295G>A

1 paper

NM_002240.5

p.V99A

c.296T>C

1 paper

NM_002240.5

p.W89*

c.267G>A

1 paper

NM_002240.5

p.W89*

c.266G>A

1 paper

NM_002240.5

p.V102E

c.305T>A

1 paper

NM_002240.5

p.W104*

c.312G>A

1 paper

NM_002240.5

p.V85M

c.253G>A

2 papers

NM_002240.5

p.I80T

c.239T>C