Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP2

DLGAP2

87 papers

RefSeq Summary

The product of this gene is a membrane-associated protein that may play a role in synapse organization and signalling in neuronal cells. This gene is biallelically expressed in the brain, however, onl...

Pfam Domains

GKAPaa 710–1055UCSCGuanylate-kinase-associated protein (GKAP) protein

Gene Aliases

HGNC Name

DLG associated protein 2

HGNC Previous Symbols

ERICH1-AS1; C8orf68

Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
3 papers
NM_001346810.2
p.G182D
c.545G>A
2 papers
NM_001346810.2
p.E71E
c.213G>A
2 papers
NM_001346810.2
p.G83D
c.248G>A
2 papers
NM_001346810.2
p.L93M
c.277C>A
2 papers
NM_001346810.2
p.R173R
c.519C>T
2 papers
NM_001346810.2
p.K184M
c.551A>T
2 papers
NM_001346810.2
p.N186N
c.558C>T
2 papers
NM_001346810.2
p.M293V
c.877A>G
2 papers
NM_001346810.2
p.Y419Y
c.1257C>T
2 papers
NM_001346810.2
p.T421I
c.1262C>T
2 papers
NM_001346810.2
p.V551I
c.1651G>A
2 papers
NM_001346810.2
p.R566*
c.1696C>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."