Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.H111_P114del0

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.H111_P114del0
c.332_340del9
Surrounding Variants
13 papers
NM_000166.6
p.G110D
c.329G>A
1 paper
NM_000166.6
p.G110A
c.329G>C
1 paper
NM_000166.6
p.G110V
c.329G>T
1 paper
NM_000166.6
p.H111_L117del0
c.332_349del18
1 paper
NM_000166.6
p.G110G
c.330C>T
1 paper
NM_000166.6
p.G110S
c.328G>A
1 paper
NM_000166.6
p.E109V
c.326A>T
1 paper
NM_000166.6
p.E109K
c.325G>A
2 papers
NM_000166.6
p.E109*
c.325G>T
1 paper
NM_000166.6
p.G112R
c.334G>A
1 paper
NM_000166.6
p.G112A
c.335G>C
3 papers
NM_000166.6
p.L108P
c.323T>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."