Varaico: Literature-Extracted Genetic Variants

Gene:PANX1
Variant:p.R300*

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.R300*
c.898C>T
Surrounding Variants
5 papers
NM_015368.4
p.R300Q
c.899G>A
1 paper
NM_015368.4
p.R300P
c.899G>C
1 paper
NM_015368.4
p.T294P
c.880A>C
1 paper
NM_015368.4
p.K307R
c.920A>G
1 paper
NM_015368.4
p.K307K
c.921A>G
1 paper
NM_015368.4
p.V290V
c.870G>T
2 papers
NM_015368.4
p.V290M
c.868G>A
1 paper
NM_015368.4
p.A288V
c.863C>T
1 paper
NM_015368.4
p.V282A
c.845T>C
2 papers
NM_015368.4
p.N326del1
c.976_977delAAC
1 paper
NM_015368.4
p.N326S
c.977A>G
3 papers
NM_015368.4
p.I272V
c.814A>G
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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."