Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.V13E

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
2 papers
NM_000166.6
p.V13E
c.38T>A
Surrounding Variants
1 paper
NM_000166.6
p.V13G
c.38T>G
6 papers
NM_000166.6
p.V13M
c.37G>A
9 papers
NM_000166.6
p.V13L
c.37G>C
1 paper
NM_000166.6
p.V13V
c.39G>C
9 papers
NM_000166.6
p.V13L
c.37G>T
1 paper
NM_000166.6
p.N14fs
c.40_41fs
3 papers
NM_000166.6
p.N14H
c.40A>C
5 papers
NM_000166.6
p.N14D
c.40A>G
8 papers
NM_000166.6
p.N14Y
c.40A>T
5 papers
NM_000166.6
p.N14S
c.41A>G
5 papers
NM_000166.6
p.G12D
c.35G>A
7 papers
NM_000166.6
p.G12V
c.35G>T
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