Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.P33S

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.P33S
c.97C>T
Surrounding Variants
1 paper
NM_002240.5
p.Q29R
c.86A>G
1 paper
NM_002240.5
p.Q29insFs
c.85dupC
1 paper
NM_002240.5
p.Q29K
c.85C>A
1 paper
NM_002240.5
p.R37T
c.110G>C
1 paper
NM_002240.5
p.H28L
c.83A>T
1 paper
NM_002240.5
p.D38Y
c.112G>T
1 paper
NM_002240.5
p.I27V
c.79A>G
1 paper
NM_002240.5
p.A26V
c.77C>T
1 paper
NM_002240.5
p.A26S
c.76G>T
1 paper
NM_002240.5
p.V25E
c.74T>A
1 paper
NM_002240.5
p.V25L
c.73G>T
1 paper
NM_002240.5
p.V25L
c.73G>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."