Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.D18V

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
2 papers
NM_002240.5
p.D18V
c.53A>T
Surrounding Variants
1 paper
NM_002240.5
p.M17I
c.51G>T
1 paper
NM_002240.5
p.M17I
c.51G>C
1 paper
NM_002240.5
p.M17I
c.51G>A
1 paper
NM_002240.5
p.M17T
c.50T>C
1 paper
NM_002240.5
p.Q19Q
c.57G>A
1 paper
NM_002240.5
p.D20N
c.58G>A
1 paper
NM_002240.5
p.V21I
c.61G>A
1 paper
NM_002240.5
p.D15E
c.45C>A
1 paper
NM_002240.5
p.D15N
c.43G>A
1 paper
NM_002240.5
p.E22K
c.64G>A
1 paper
NM_002240.5
p.G14V
c.41G>T
1 paper
NM_002240.5
p.E13G
c.38A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."