Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.Y135D

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.Y135D
c.403T>G
Surrounding Variants
1 paper
NM_000166.6
p.Y135_V136insC
c.403_407ins3
1 paper
NM_000166.6
p.Y135fs
c.403_404fs
3 papers
NM_000166.6
p.Y135C
c.404A>G
3 papers
NM_000166.6
p.Y135insFs
c.403_404insT
1 paper
NM_000166.6
p.Y135delFs
c.404_405delAT
1 paper
NM_000166.6
p.T134delFs
c.402delC
5 papers
NM_000166.6
p.W133*
c.399G>A
2 papers
NM_000166.6
p.W133C
c.399G>C
2 papers
NM_000166.6
p.W133C
c.399G>T
1 paper
NM_000166.6
p.V136D
c.407T>A
10 papers
NM_000166.6
p.V136A
c.407T>C
1 paper
NM_000166.6
p.V136G
c.407T>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."