Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.T55_S62ins2

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
3 papers
NM_000166.6
p.T55_S62ins2
c.164_184dup21
Surrounding Variants
1 paper
NM_000166.6
p.I52delFs
c.155delT
8 papers
NM_000166.6
p.F51L
c.153C>A
8 papers
NM_000166.6
p.F51L
c.153C>G
16 papers
NM_000166.6
p.C53S
c.157T>A
1 paper
NM_000166.6
p.C53R
c.157T>C
1 paper
NM_000166.6
p.C53Y
c.158G>A
16 papers
NM_000166.6
p.C53S
c.158G>C
1 paper
NM_000166.6
p.F51C
c.152T>G
8 papers
NM_000166.6
p.F51L
c.151T>C
5 papers
NM_000166.6
p.N54H
c.160A>C
3 papers
NM_000166.6
p.N54S
c.161A>G
1 paper
NM_000166.6
p.N54I
c.161A>T
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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."