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.G138R

c.412G>A

Surrounding Variants

1 paper

NM_002240.5

p.V140I

c.418G>A

1 paper

NM_002240.5

p.L136V

c.406C>G

1 paper

NM_002240.5

p.T134delFs

c.400delT

1 paper

NM_002240.5

p.V133D

c.398T>A

2 papers

NM_002240.5

p.S146T

c.436T>A

1 paper

NM_002240.5

p.W129S

c.386G>C

1 paper

NM_002240.5

p.T149ins1

c.446_447insAAC

1 paper

NM_002240.5

p.D126V

c.377A>T

1 paper

NM_002240.5

p.E150K

c.448G>A

1 paper

NM_002240.5

p.T151S

c.451A>T

2 papers

NM_002240.5

p.T151A

c.451A>G

1 paper

NM_002240.5

p.T151I

c.452C>T