Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP4
Variant:p.Q403H

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.Q403H
c.1209G>C
Surrounding Variants
2 papers
NM_001365621.2
p.Q403H
c.1209G>T
1 paper
NM_001365621.2
p.S384I
c.1151G>T
1 paper
NM_001365621.2
p.Y369_I370insFs
c.1107_1108ins7
1 paper
NM_001365621.2
p.C430Y
c.1289G>A
1 paper
NM_001365621.2
p.D442N
c.1324G>A
1 paper
NM_001365621.2
p.Q333_V334Splc
c.999+9C>T
1 paper
NM_001365621.2
p.T309T
c.927C>T
1 paper
NM_001365621.2
p.H301Y
c.901C>T
1 paper
NM_001365621.2
p.L299L
c.897C>A
2 papers
NM_001365621.2
p.A272P
c.814G>C
1 paper
NM_001365621.2
p.P270P
c.810G>C
1 paper
NM_001365621.2
p.H252Y
c.754C>T
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