Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.D226N

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
3 papers
NM_002240.5
p.D226N
c.676G>A
Surrounding Variants
1 paper
NM_002240.5
p.D226E
c.678C>G
1 paper
NM_002240.5
p.D226E
c.678C>A
1 paper
NM_002240.5
p.R223Q
c.668G>A
1 paper
NM_002240.5
p.I232L
c.694A>C
1 paper
NM_002240.5
p.K217N
c.651A>T
1 paper
NM_002240.5
p.K217N
c.651A>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.R238*
c.712A>T
1 paper
NM_002240.5
p.A239T
c.715G>A
1 paper
NM_002240.5
p.Q246H
c.738G>T
1 paper
NM_002240.5
p.Q246H
c.738G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."