Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.W44L

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.W44L
c.131G>T
Surrounding Variants
4 papers
NM_000166.6
p.W44*
c.131G>A
3 papers
NM_000166.6
p.W44S
c.131G>C
4 papers
NM_000166.6
p.W44*
c.132G>A
13 papers
NM_000166.6
p.W44C
c.132G>C
12 papers
NM_000166.6
p.W44C
c.132G>T
2 papers
NM_000166.6
p.W44R
c.130T>C
2 papers
NM_000166.6
p.W44G
c.130T>G
1 paper
NM_000166.6
p.G45C
c.133G>T
2 papers
NM_000166.6
p.V43M
c.127G>A
1 paper
NM_000166.6
p.V43insFs
c.128dupT
1 paper
NM_000166.6
p.G45_D46insFs
c.135_136insC
2 papers
NM_000166.6
p.S42R
c.126T>A
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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."