Varaico: Literature-Extracted Genetic Variants

Gene:DLGAP5
Variant:p.S244R

DLGAP5

75 papers

Pfam Domains

GKAPaa 260–601UCSCGuanylate-kinase-associated protein (GKAP) protein

Gene Aliases

HGNC Name

DLG associated protein 5

HGNC Previous Symbol

DLG7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014750.5
p.S244R
c.732T>A
Surrounding Variants
1 paper
NM_014750.5
p.S244R
c.732T>G
1 paper
NM_014750.5
p.S244R
c.730A>C
1 paper
NM_014750.5
p.P248P
c.744T>A
1 paper
NM_014750.5
p.D257N
c.769G>A
1 paper
NM_014750.5
p.V220A
c.659T>C
1 paper
NM_014750.5
p.K192_K193delFs
c.576_577delTT
2 papers
NM_014750.5
p.R173*
c.517C>T
1 paper
NM_014750.5
p.N168D
c.502A>G
1 paper
NM_014750.5
p.G259D
c.776G>A
1 paper
NM_014750.5
p.P283A
c.847C>G
1 paper
NM_014750.5
p.G285E
c.854G>A
1 paper
NM_014750.5
p.M290V
c.868A>G
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