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.Q286H

c.858G>T

Surrounding Variants

1 paper

NM_002240.5

p.Q286H

c.858G>C

1 paper

NM_002240.5

p.W290R

c.868T>C

1 paper

NM_002240.5

p.W290R

c.868T>A

1 paper

NM_002240.5

p.E282Q

c.844G>C

1 paper

NM_002240.5

p.E291A

c.872A>C

1 paper

NM_002240.5

p.I292L

c.874A>C

1 paper

NM_002240.5

p.A295T

c.883G>A

1 paper

NM_002240.5

p.L273_V274insFs

c.819_820insT

1 paper

NM_002240.5

p.E301K

c.901G>A

3 papers

NM_002240.5

p.E303K

c.907G>A

1 paper

NM_002240.5

p.R270H

c.809G>A

1 paper

NM_002240.5

p.T266M

c.797C>T