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.K59N

c.177A>C

Surrounding Variants

2 papers

NM_002240.5

p.K59N

c.177A>T

1 paper

NM_002240.5

p.D60N

c.178G>A

1 paper

NM_002240.5

p.D60A

c.179A>C

1 paper

NM_002240.5

p.G61R

c.181G>C

1 paper

NM_002240.5

p.G61R

c.181G>A

1 paper

NM_002240.5

p.V57M

c.169G>A

1 paper

NM_002240.5

p.N64S

c.191A>G

1 paper

NM_002240.5

p.N64K

c.192T>A

1 paper

NM_002240.5

p.I53T

c.158T>C

3 papers

NM_002240.5

p.I53N

c.158T>A

1 paper

NM_002240.5

p.V65_H66insFs

c.195_196insT

2 papers

NM_002240.5

p.I53V

c.157A>G