Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DLGAP2

Variant:p.T421I

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

2 papers

chr8:1565714 C>T

NM_001346810.2

p.T421I

c.1262C>T

exact variant not in gnomAD11 overlapping SVs

Surrounding Variants

1 paper

chr8:1565711 C>T

NM_001346810.2

p.P420L

c.1259C>T

exact variant not in gnomAD11 overlapping SVs

2 papers

chr8:1565709 C>T

NM_001346810.2

p.Y419Y

c.1257C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=15, hom=0)11 overlapping SVs

1 paper

chr8:1565741 G>T

NM_001346810.2

p.C430F

c.1289G>T

exact variant not in gnomAD11 overlapping SVs

1 paper

chr8:1565843 C>A

NM_001346810.2

p.P464Q

c.1391C>A

Exome: 45.8% (AC=668871, hom=155190)Genome: 44.7% (AC=67913, hom=15380)11 overlapping SVs

1 paper

chr8:1565882 G>C

NM_001346810.2

p.G477A

c.1430G>C

Exome: 0.0% (AC=4, hom=0)Genome: n/a11 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."