Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.W24C

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
8 papers
NM_000166.6
p.W24C
c.72G>C
Surrounding Variants
7 papers
NM_000166.6
p.W24*
c.72G>A
8 papers
NM_000166.6
p.W24C
c.72G>T
3 papers
NM_000166.6
p.L25F
c.73C>T
7 papers
NM_000166.6
p.W24*
c.71G>A
3 papers
NM_000166.6
p.V23E
c.68T>A
5 papers
NM_000166.6
p.V23A
c.68T>C
1 paper
NM_000166.6
p.S26fs
c.76_77fs
1 paper
NM_000166.6
p.S26delFs
c.77delC
1 paper
NM_000166.6
p.S26*
c.77C>A
9 papers
NM_000166.6
p.S26W
c.77C>G
66 papers
NM_000166.6
p.S26L
c.77C>T
1 paper
NM_000166.6
p.V23I
c.67G>A
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