Varaico: Literature-Extracted Genetic Variants

Gene:GJC2
Variant:p.P385delFs

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
2 papers
NM_020435.4
p.P385delFs
c.1155delC
Surrounding Variants
1 paper
NM_020435.4
p.P384fs
c.1150_1151fs
2 papers
NM_020435.4
p.P384S
c.1150C>T
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.R386fs
c.1156_1157fs
1 paper
NM_020435.4
p.S381fs
c.1141_1142fs
2 papers
NM_020435.4
p.S381_P384delFs
c.1141_1151del11
1 paper
NM_020435.4
p.A379fs
c.1135_1136fs
1 paper
NM_020435.4
p.A389T
c.1165G>A
1 paper
NM_020435.4
p.L377H
c.1130T>A
4 papers
NM_020435.4
p.V375_A379delFs
c.1125_1135del11
9 papers
NM_020435.4
p.T398I
c.1193C>T
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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."