Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP4
Variant:p.A272P

DLGAP4

67 papers

RefSeq Summary

The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and recepto...

Pfam Domains

GKAPaa 1–285UCSCGuanylate-kinase-associated protein (GKAP) protein

Gene Aliases

HGNC Name

DLG associated protein 4

HGNC Alias Symbols

DAP4; KIAA0964; SAPAP4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001365621.2
p.A272P
c.814G>C
Surrounding Variants
1 paper
NM_001365621.2
p.P270P
c.810G>C
1 paper
NM_001365621.2
p.H252Y
c.754C>T
1 paper
NM_001365621.2
p.L299L
c.897C>A
1 paper
NM_001365621.2
p.H301Y
c.901C>T
1 paper
NM_001365621.2
p.T309T
c.927C>T
1 paper
NM_001365621.2
p.E214K
c.640G>A
1 paper
NM_001365621.2
p.Q333_V334Splc
c.999+9C>T
1 paper
NM_001365621.2
p.W204*
c.612G>A
1 paper
NM_001365621.2
p.W204*
c.611G>A
2 papers
NM_001365621.2
p.S202S
c.606A>C
1 paper
NM_001365621.2
p.I201_S202insFs
c.603_604ins7
1 paper
NM_001365621.2
p.P193T
c.577C>A
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