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.Q195_P196insT

c.583_587ins3

Surrounding Variants

1 paper

NM_002240.5

p.S194A

c.580T>G

1 paper

NM_002240.5

p.I193L

c.577A>C

1 paper

NM_002240.5

p.A200E

c.599C>A

1 paper

NM_002240.5

p.F205I

c.613T>A

1 paper

NM_002240.5

p.I180L

c.538A>C

1 paper

NM_002240.5

p.S179P

c.535T>C

1 paper

NM_002240.5

p.G178A

c.533G>C

1 paper

NM_002240.5

p.R214L

c.641G>T

1 paper

NM_002240.5

p.R214Q

c.641G>A

1 paper

NM_002240.5

p.K217N

c.651A>T

1 paper

NM_002240.5

p.K217N

c.651A>C

5 papers

NM_002240.5

p.L171R

c.512T>G