Varaico: Literature-Extracted Genetic Variants

Gene:PANX1
Variant:p.Q264*

PANX1

112 papers

RefSeq Summary

The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central n...

Pfam Domains

Innexinaa 33–244UCSCInnexin

Gene Aliases

HGNC Name

pannexin 1

HGNC Alias Symbols

MRS1; UNQ2529; PX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015368.4
p.Q264*
c.790C>T
Surrounding Variants
1 paper
NM_015368.4
p.C265S
c.793T>A
1 paper
NM_015368.4
p.C265S
c.794G>C
3 papers
NM_015368.4
p.I272V
c.814A>G
1 paper
NM_015368.4
p.N255S
c.764A>G
1 paper
NM_015368.4
p.G251V
c.752G>T
1 paper
NM_015368.4
p.V282A
c.845T>C
1 paper
NM_015368.4
p.E243Q
c.727G>C
1 paper
NM_015368.4
p.A288V
c.863C>T
1 paper
NM_015368.4
p.S239L
c.716C>T
2 papers
NM_015368.4
p.V290M
c.868G>A
5 papers
NM_015368.4
p.S238P
c.712T>C
1 paper
NM_015368.4
p.V290V
c.870G>T
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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."