Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP3
Variant:p.H227Q

DLGAP3

120 papers

Pfam Domains

GKAPaa 628–979UCSCGuanylate-kinase-associated protein (GKAP) protein

Gene Aliases

HGNC Name

DLG associated protein 3

HGNC Alias Symbol

SAPAP3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080418.3
p.H227Q
c.681C>G
Surrounding Variants
1 paper
NM_001080418.3
p.H227Q
c.681C>A
1 paper
NM_001080418.3
p.H228D
c.682C>G
1 paper
NM_001080418.3
p.H227_H228del2
c.679_683del6
1 paper
NM_001080418.3
p.H220Y
c.658C>T
1 paper
NM_001080418.3
p.H234_Q235del1
c.702_704delTGG
1 paper
NM_001080418.3
p.S236F
c.707C>T
1 paper
NM_001080418.3
p.G215S
c.643G>A
1 paper
NM_001080418.3
p.D209V
c.626A>T
1 paper
NM_001080418.3
p.R247P
c.740G>C
1 paper
NM_001080418.3
p.D250G
c.749A>G
1 paper
NM_001080418.3
p.R252W
c.754C>T
1 paper
NM_001080418.3
p.S257F
c.770C>T
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