Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.M93V

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
15 papers
NM_000166.6
p.M93V
c.277A>G
Surrounding Variants
1 paper
NM_000166.6
p.M93fs
c.277_278fs
2 papers
NM_000166.6
p.M93K
c.278T>A
1 paper
NM_000166.6
p.M93T
c.278T>C
5 papers
NM_000166.6
p.M93R
c.278T>G
3 papers
NM_000166.6
p.M93I
c.279G>A
2 papers
NM_000166.6
p.M93I
c.279G>C
2 papers
NM_000166.6
p.M93I
c.279G>T
1 paper
NM_000166.6
p.H94_V95ins6
c.280_284ins18
15 papers
NM_000166.6
p.H94D
c.280C>G
14 papers
NM_000166.6
p.H94Y
c.280C>T
1 paper
NM_000166.6
p.A92T
c.274G>A
1 paper
NM_000166.6
p.H94insFs
c.281_282insG
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