Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.C179R

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
5 papers
NM_000166.6
p.C179R
c.535T>C
Surrounding Variants
2 papers
NM_000166.6
p.C179S
c.535T>A
2 papers
NM_000166.6
p.C179G
c.535T>G
1 paper
NM_000166.6
p.C179_F180insC
c.535_539ins3
1 paper
NM_000166.6
p.D178E
c.534C>G
8 papers
NM_000166.6
p.C179Y
c.536G>A
2 papers
NM_000166.6
p.C179S
c.536G>C
1 paper
NM_000166.6
p.C179insFs
c.536_537ins4
10 papers
NM_000166.6
p.D178G
c.533A>G
3 papers
NM_000166.6
p.C179*
c.537C>A
2 papers
NM_000166.6
p.D178N
c.532G>A
14 papers
NM_000166.6
p.D178Y
c.532G>T
2 papers
NM_000166.6
p.F180L
c.538T>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."