Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.E107insFs

GJC2

216 papers

RefSeq Summary

This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gen...

Pfam Domains

Connexinaa 5–291UCSCConnexin

Gene Aliases

HGNC Name

gap junction protein gamma 2

HGNC Previous Symbol

GJA12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020435.4
p.E107insFs
c.320_321insC
Surrounding Variants
1 paper
NM_020435.4
p.Q108_R111del4
c.322_332del12
1 paper
NM_020435.4
p.E109*
c.325G>T
1 paper
NM_020435.4
p.S106_Q108del3
c.316_323del9
1 paper
NM_020435.4
p.A113T
c.337G>A
5 papers
NM_020435.4
p.R101L
c.302G>T
1 paper
NM_020435.4
p.R101S
c.301C>A
1 paper
NM_020435.4
p.H100L
c.299A>T
2 papers
NM_020435.4
p.H100Y
c.298C>T
1 paper
NM_020435.4
p.R115L
c.344G>T
1 paper
NM_020435.4
p.A98G
c.293C>G
1 paper
NM_020435.4
p.R116H
c.347G>A
2 papers
NM_020435.4
p.A98ins1
c.292_293insGTA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."