Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP2
Variant:p.A272T

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
Selected Variant
1 paper
NM_001346810.2
p.A272T
c.814G>A
Surrounding Variants
1 paper
NM_001346810.2
p.A269T
c.805G>A
1 paper
NM_001346810.2
p.K276N
c.828G>T
1 paper
NM_001346810.2
p.H270_A272del0
c.808_816del9
1 paper
NM_001346810.2
p.E282K
c.844G>A
1 paper
NM_001346810.2
p.G287R
c.859G>C
1 paper
NM_001346810.2
p.G256R
c.766G>C
1 paper
NM_001346810.2
p.G292S
c.874G>A
2 papers
NM_001346810.2
p.M293V
c.877A>G
1 paper
NM_001346810.2
p.W296*
c.887G>A
1 paper
NM_001346810.2
p.K238insFs
c.712_713insT
1 paper
NM_001346810.2
p.H234D
c.700C>G
1 paper
NM_001346810.2
p.R222H
c.665G>A
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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."