Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S11C

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
1 paper
NM_000166.6
p.S11C
c.31A>T
Surrounding Variants
1 paper
NM_000166.6
p.S11G
c.31A>G
1 paper
NM_000166.6
p.L10_S11ins1
c.30_31insGGA
1 paper
NM_000166.6
p.L10L
c.30C>T
2 papers
NM_000166.6
p.L10P
c.29T>C
1 paper
NM_000166.6
p.G12insFs
c.35_36insG
11 papers
NM_000166.6
p.G12delFs
c.35delG
1 paper
NM_000166.6
p.L10_S11insG
c.28_32ins3
42 papers
NM_000166.6
p.G12S
c.34G>A
10 papers
NM_000166.6
p.G12R
c.34G>C
3 papers
NM_000166.6
p.G12C
c.34G>T
5 papers
NM_000166.6
p.G12D
c.35G>A
5 papers
NM_000166.6
p.L9F
c.27G>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."