Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.G5D

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.G5D
c.14G>A
Surrounding Variants
1 paper
NM_000166.6
p.G5S
c.13G>A
3 papers
NM_000166.6
p.G5R
c.13G>C
1 paper
NM_000166.6
p.T4K
c.11C>A
3 papers
NM_000166.6
p.L6S
c.17T>C
1 paper
NM_000166.6
p.T4insFs
c.10_11insG
6 papers
NM_000166.6
p.W3*
c.9G>A
2 papers
NM_000166.6
p.W3C
c.9G>C
5 papers
NM_000166.6
p.Y7D
c.19T>G
8 papers
NM_000166.6
p.Y7_T8del1
c.20_22delACA
5 papers
NM_000166.6
p.Y7C
c.20A>G
6 papers
NM_000166.6
p.W3*
c.8G>A
9 papers
NM_000166.6
p.W3S
c.8G>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."