Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V74A

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.V74A
c.221T>C
Surrounding Variants
2 papers
NM_000166.6
p.V74M
c.220G>A
1 paper
NM_000166.6
p.V74L
c.220G>C
76 papers
NM_000166.6
p.R75W
c.223C>T
4 papers
NM_000166.6
p.R75delFs
c.225delG
5 papers
NM_000166.6
p.H73R
c.218A>G
33 papers
NM_000166.6
p.R75Q
c.224G>A
12 papers
NM_000166.6
p.R75P
c.224G>C
3 papers
NM_000166.6
p.R75L
c.224G>T
1 paper
NM_000166.6
p.L76fs
c.226_227fs
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.L76P
c.227T>C
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