Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L79delFs

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
12 papers
NM_000166.6
p.L79delFs
c.235delC
Surrounding Variants
2 papers
NM_000166.6
p.S78F
c.233C>T
4 papers
NM_000166.6
p.W77*
c.231G>A
2 papers
NM_000166.6
p.W77C
c.231G>C
2 papers
NM_000166.6
p.W77C
c.231G>T
4 papers
NM_000166.6
p.W77*
c.230G>A
3 papers
NM_000166.6
p.W77S
c.230G>C
1 paper
NM_000166.6
p.L79insFs
c.235_236insT
9 papers
NM_000166.6
p.W77R
c.229T>A
9 papers
NM_000166.6
p.W77R
c.229T>C
1 paper
NM_000166.6
p.L79P
c.236T>C
5 papers
NM_000166.6
p.L76P
c.227T>C
6 papers
NM_000166.6
p.L76R
c.227T>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."