Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.L74L

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.L74L
c.220C>T
Surrounding Variants
1 paper
NM_020435.4
p.L74fs
c.220_221fs
1 paper
NM_020435.4
p.P73P
c.219C>G
1 paper
NM_020435.4
p.P73insFs
c.218_219insT
1 paper
NM_020435.4
p.P73T
c.217C>A
4 papers
NM_020435.4
p.P73S
c.217C>T
2 papers
NM_020435.4
p.P73fs
c.217_218fs
1 paper
NM_020435.4
p.A72A
c.216G>A
3 papers
NM_020435.4
p.A72Fs
c.216delinsAAFs
3 papers
NM_020435.4
p.P73_L74delFs
c.219_220delCC
1 paper
NM_020435.4
p.A72V
c.215C>T
1 paper
NM_020435.4
p.F79del1
c.235_236delTTC
4 papers
NM_020435.4
p.Y68C
c.203A>G
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."