Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.H73delFs

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.H73delFs
c.217delC
Surrounding Variants
1 paper
NM_000166.6
p.S72C
c.215C>G
2 papers
NM_000166.6
p.S72F
c.215C>T
5 papers
NM_000166.6
p.I71T
c.212T>C
6 papers
NM_000166.6
p.I71S
c.212T>G
1 paper
NM_000166.6
p.I71F
c.211A>T
5 papers
NM_000166.6
p.H73R
c.218A>G
1 paper
NM_000166.6
p.P70L
c.209C>T
2 papers
NM_000166.6
p.P70A
c.208C>G
2 papers
NM_000166.6
p.P70S
c.208C>T
2 papers
NM_000166.6
p.V74M
c.220G>A
1 paper
NM_000166.6
p.V74L
c.220G>C
3 papers
NM_000166.6
p.F69L
c.207C>A
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