Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP2
Variant:p.M81T

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.M81T
c.242T>C
Surrounding Variants
2 papers
NM_001346810.2
p.G83D
c.248G>A
1 paper
NM_001346810.2
p.P78S
c.232C>T
1 paper
NM_001346810.2
p.Q90*
c.268C>T
2 papers
NM_001346810.2
p.E71E
c.213G>A
2 papers
NM_001346810.2
p.L93M
c.277C>A
1 paper
NM_001346810.2
p.C128Y
c.383G>A
1 paper
NM_001346810.2
p.G130delFs
c.390delG
1 paper
NM_001346810.2
p.R134H
c.401G>A
1 paper
NM_001346810.2
p.D154N
c.460G>A
2 papers
NM_001346810.2
p.R173R
c.519C>T
1 paper
NM_001346810.2
p.D174N
c.520G>A
3 papers
NM_001346810.2
p.G182D
c.545G>A
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