Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.R408W

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.R408W
c.1222C>T
Surrounding Variants
4 papers
NM_020435.4
p.H412Y
c.1234C>T
1 paper
NM_020435.4
p.H412H
c.1236C>T
1 paper
NM_020435.4
p.E413_K418delFs
c.1238_1253del16
4 papers
NM_020435.4
p.A400E
c.1199C>A
9 papers
NM_020435.4
p.T398I
c.1193C>T
1 paper
NM_020435.4
p.K418_P419del1
c.1254_1256delGCC
1 paper
NM_020435.4
p.R420G
c.1258A>G
1 paper
NM_020435.4
p.A389T
c.1165G>A
1 paper
NM_020435.4
p.R386fs
c.1156_1157fs
1 paper
NM_020435.4
p.P385fs
c.1153_1154fs
1 paper
NM_020435.4
p.P385S
c.1153C>T
1 paper
NM_020435.4
p.P384fs
c.1150_1151fs
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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."