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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DLGAP2

Variant:p.N504N

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:1626809 C>T

NM_001346810.2

p.N504N

c.1512C>T

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

Surrounding Variants

1 paper

chr8:1626822 C>T

NM_001346810.2

p.R509C

c.1525C>T

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

2 papers

chr8:1632887 G>A

NM_001346810.2

p.V551I

c.1651G>A

exact variant not in gnomAD11 overlapping SVs

2 papers

chr8:1632932 C>T

NM_001346810.2

p.R566*

c.1696C>T

exact variant not in gnomAD11 overlapping SVs

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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."