Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M34I

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.M34I
c.102G>T
Surrounding Variants
4 papers
NM_000166.6
p.M34I
c.102G>A
2 papers
NM_000166.6
p.M34I
c.102G>C
24 papers
NM_000166.6
p.V35M
c.103G>A
3 papers
NM_000166.6
p.V35L
c.103G>C
1 paper
NM_000166.6
p.V35insFs
c.103_104insA
3 papers
NM_000166.6
p.V35L
c.103G>T
9 papers
NM_000166.6
p.M34K
c.101T>A
46 papers
NM_000166.6
p.M34T
c.101T>C
9 papers
NM_000166.6
p.M34V
c.100A>G
2 papers
NM_000166.6
p.V35A
c.104T>C
1 paper
NM_000166.6
p.I33_M34ins1
c.99_100insCAT
2 papers
NM_000166.6
p.I33M
c.99C>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."