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

1–12 of 197 variants

27 papers

NM_002240.5

p.G156S

c.466G>A

10 papers

NM_002240.5

p.G154S

c.460G>A

5 papers

NM_002240.5

p.L171R

c.512T>G

4 papers

NM_002240.5

p.T152del1

c.454_455delGGT

3 papers

NM_002240.5

p.I53N

c.158T>A

3 papers

NM_002240.5

p.D226N

c.676G>A

3 papers

NM_002240.5

p.E303K

c.907G>A

3 papers

NM_002240.5

p.L381P

c.1142T>C

2 papers

NM_002240.5

p.D18V

c.53A>T

2 papers

NM_002240.5

p.R42G

c.124A>G

2 papers

NM_002240.5

p.I53V

c.157A>G

2 papers

NM_002240.5

p.K59N

c.177A>T