Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.A96P

GJB1

948 papers

RefSeq Summary

This gene encodes a member of the gap junction protein family. The gap junction proteins are membrane-spanning proteins that assemble to form gap junction channels that facilitate the transfer of ions...

Pfam Domains

Connexinaa 2–214UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein beta 1

HGNC Previous Symbols

CMTX1; CMTX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_000166.6
p.A96P
c.286G>C
Surrounding Variants
1 paper
NM_000166.6
p.A96S
c.286G>T
5 papers
NM_000166.6
p.A96G
c.287C>G
2 papers
NM_000166.6
p.A96V
c.287C>T
1 paper
NM_000166.6
p.V95A
c.284T>C
1 paper
NM_000166.6
p.V95G
c.284T>G
45 papers
NM_000166.6
p.V95M
c.283G>A
2 papers
NM_000166.6
p.H97R
c.290A>G
18 papers
NM_000166.6
p.H94Q
c.282C>A
18 papers
NM_000166.6
p.H94Q
c.282C>G
1 paper
NM_000166.6
p.H94insFs
c.281_282insG
1 paper
NM_000166.6
p.H94P
c.281A>C
1 paper
NM_000166.6
p.H94_V95ins6
c.280_284ins18
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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."