Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.D278_C280del0

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.D278_C280del0
c.832_840del9
Surrounding Variants
1 paper
NM_000166.6
p.S277N
c.830G>A
1 paper
NM_000166.6
p.K276T
c.827A>C
1 paper
NM_000166.6
p.K276R
c.827A>G
1 paper
NM_000166.6
p.R279insFs
c.835dupC
2 papers
NM_000166.6
p.D278V
c.833A>T
1 paper
NM_000166.6
p.R279C
c.835C>T
1 paper
NM_000166.6
p.R279P
c.836G>C
16 papers
NM_000166.6
p.C280G
c.838T>G
1 paper
NM_000166.6
p.C280Y
c.839G>A
1 paper
NM_000166.6
p.C280S
c.839G>C
1 paper
NM_000166.6
p.L273fs
c.817_818fs
1 paper
NM_000166.6
p.S281P
c.841T>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."