Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.A363V

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.A363V
c.1088C>T
Surrounding Variants
2 papers
NM_020435.4
p.D366insFs
c.1096dupG
2 papers
NM_020435.4
p.D366fs
c.1096_1097fs
1 paper
NM_020435.4
p.R359C
c.1075C>T
1 paper
NM_020435.4
p.A357V
c.1070C>T
3 papers
NM_020435.4
p.Q356K
c.1066C>A
1 paper
NM_020435.4
p.L353P
c.1058T>C
4 papers
NM_020435.4
p.V375_A379delFs
c.1125_1135del11
1 paper
NM_020435.4
p.L377H
c.1130T>A
1 paper
NM_020435.4
p.A379fs
c.1135_1136fs
2 papers
NM_020435.4
p.S381_P384delFs
c.1141_1151del11
1 paper
NM_020435.4
p.S381fs
c.1141_1142fs
1 paper
NM_020435.4
p.R344L
c.1031G>T
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."