Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.S138C

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.S138C
c.412A>T
Surrounding Variants
3 papers
NM_000166.6
p.S138G
c.412A>G
8 papers
NM_000166.6
p.S138N
c.413G>A
1 paper
NM_000166.6
p.S138R
c.414C>G
1 paper
NM_000166.6
p.I137N
c.410T>A
1 paper
NM_000166.6
p.I137V
c.409A>G
45 papers
NM_000166.6
p.V139M
c.415G>A
1 paper
NM_000166.6
p.V139L
c.415G>C
1 paper
NM_000166.6
p.V139L
c.415G>T
1 paper
NM_000166.6
p.V139V
c.417G>A
1 paper
NM_000166.6
p.V136D
c.407T>A
10 papers
NM_000166.6
p.V136A
c.407T>C
1 paper
NM_000166.6
p.V136G
c.407T>G
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