Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP4
Variant:p.L514L

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
1 paper
NM_001365621.2
p.L514L
c.1542G>A
Surrounding Variants
1 paper
NM_001365621.2
p.R509H
c.1526G>A
1 paper
NM_001365621.2
p.S532F
c.1595C>T
1 paper
NM_001365621.2
p.P536L
c.1607C>T
1 paper
NM_001365621.2
p.G540S
c.1618G>A
1 paper
NM_001365621.2
p.L542I
c.1624C>A
1 paper
NM_001365621.2
p.A486T
c.1456G>A
1 paper
NM_001365621.2
p.E474A
c.1421A>C
1 paper
NM_001365621.2
p.Q462fs
c.1384_1385fs
1 paper
NM_001365621.2
p.I460delFs
c.1380delC
1 paper
NM_001365621.2
p.D442N
c.1324G>A
1 paper
NM_001365621.2
p.C430Y
c.1289G>A
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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."