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.S328R

c.984T>G

Surrounding Variants

1 paper

NM_002240.5

p.S328R

c.984T>A

1 paper

NM_002240.5

p.S328R

c.982A>C

1 paper

NM_002240.5

p.W332*

c.995G>A

1 paper

NM_002240.5

p.W332*

c.996G>A

1 paper

NM_002240.5

p.R335Q

c.1004G>A

1 paper

NM_002240.5

p.G316Splc

c.947-7T>C

1 paper

NM_002240.5

p.D344V

c.1031A>T

1 paper

NM_002240.5

p.E348K

c.1042G>A

1 paper

NM_002240.5

p.D350G

c.1049A>G

1 paper

NM_002240.5

p.Y358N

c.1072T>A

1 paper

NM_002240.5

p.S361T

c.1082G>C

1 paper

NM_002240.5

p.L365F

c.1093C>T