Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.E47_K48ins0

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.E47_K48ins0
c.141_143dupGAA
Surrounding Variants
4 papers
NM_000166.6
p.E47K
c.139G>A
1 paper
NM_000166.6
p.E47*
c.139G>T
1 paper
NM_000166.6
p.E47delFs
c.140delA
2 papers
NM_000166.6
p.E47G
c.140A>G
1 paper
NM_000166.6
p.D46G
c.137A>G
1 paper
NM_000166.6
p.D46V
c.137A>T
1 paper
NM_000166.6
p.G45_D46insFs
c.135_136insC
1 paper
NM_000166.6
p.G45C
c.133G>T
1 paper
NM_000166.6
p.S49P
c.145T>C
5 papers
NM_000166.6
p.S49Y
c.146C>A
1 paper
NM_000166.6
p.S49F
c.146C>T
4 papers
NM_000166.6
p.W44*
c.132G>A
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