Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E208G

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
2 papers
NM_000166.6
p.E208G
c.623A>G
Surrounding Variants
43 papers
NM_000166.6
p.E208K
c.622G>A
1 paper
NM_000166.6
p.A207G
c.620C>G
1 paper
NM_000166.6
p.V210_Y211insC
c.628_632ins3
2 papers
NM_000166.6
p.V206E
c.617T>A
1 paper
NM_000166.6
p.V206insFs
c.617dupT
5 papers
NM_000166.6
p.Y211H
c.631T>C
59 papers
NM_000166.6
p.N205S
c.614A>G
9 papers
NM_000166.6
p.N205I
c.614A>T
7 papers
NM_000166.6
p.Y211*
c.633C>A
7 papers
NM_000166.6
p.Y211*
c.633C>G
1 paper
NM_000166.6
p.I214ins0
c.640_642dupATC
3 papers
NM_000166.6
p.L212F
c.634C>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."