Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP4
Variant:p.R140H

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.R140H
c.419G>A
Surrounding Variants
1 paper
NM_001365621.2
p.I139I
c.417C>A
1 paper
NM_001365621.2
p.R138C
c.412C>T
1 paper
NM_001365621.2
p.G127G
c.381C>T
1 paper
NM_001365621.2
p.Q123fs
c.367_368fs
1 paper
NM_001365621.2
p.Q123insFs
c.367dupC
1 paper
NM_001365621.2
p.G177S
c.529G>A
1 paper
NM_001365621.2
p.A102T
c.304G>A
1 paper
NM_001365621.2
p.E186K
c.556G>A
2 papers
NM_001365621.2
p.A188P
c.562G>C
1 paper
NM_001365621.2
p.P193T
c.577C>A
1 paper
NM_001365621.2
p.P193A
c.577C>G
1 paper
NM_001365621.2
p.I201_S202insFs
c.603_604ins7
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."