Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.P58_G59Fs

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.P58_G59Fs
c.174_176delinsTGTGFs
Surrounding Variants
3 papers
NM_000166.6
p.G59S
c.175G>A
9 papers
NM_000166.6
p.G59R
c.175G>C
1 paper
NM_000166.6
p.G59delins
c.176delinsTGTG
1 paper
NM_000166.6
p.G59delFs
c.176_177delGC
1 paper
NM_000166.6
p.G59D
c.176G>A
7 papers
NM_000166.6
p.G59A
c.176G>C
1 paper
NM_000166.6
p.P58H
c.173C>A
4 papers
NM_000166.6
p.P58R
c.173C>G
2 papers
NM_000166.6
p.P58A
c.172C>G
3 papers
NM_000166.6
p.P58S
c.172C>T
1 paper
NM_000166.6
p.C60S
c.178T>A
1 paper
NM_000166.6
p.C60R
c.178T>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."