Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ6
Variant:p.L171F

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.L171F
c.511C>T
Surrounding Variants
5 papers
NM_002240.5
p.L171R
c.512T>G
1 paper
NM_002240.5
p.I168T
c.503T>C
1 paper
NM_002240.5
p.P165P
c.495A>G
1 paper
NM_002240.5
p.P165L
c.494C>T
1 paper
NM_002240.5
p.G178A
c.533G>C
1 paper
NM_002240.5
p.S179P
c.535T>C
1 paper
NM_002240.5
p.I180L
c.538A>C
1 paper
NM_002240.5
p.G156R
c.466G>C
27 papers
NM_002240.5
p.G156S
c.466G>A
1 paper
NM_002240.5
p.G154C
c.460G>T
2 papers
NM_002240.5
p.G154R
c.460G>C
10 papers
NM_002240.5
p.G154S
c.460G>A
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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."