Varaico: Literature-Extracted Genetic Variants

Gene:GSAP
Variant:p.Y176Splc

GSAP

53 papers

RefSeq Summary

Accumulation of neurotoxic amyloid-beta is a major hallmark of Alzheimer disease (AD; MIM 104300). Formation of amyloid-beta is catalyzed by gamma-secretase (see PSEN1; MIM 104311), a protease with nu...

Pfam Domains

GSAP-16aa 642–749UCSCgamma-Secretase-activating protein C-term

Gene Aliases

HGNC Name

gamma-secretase activating protein

HGNC Previous Symbol

PION

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017439.4
p.Y176Splc
c.527-1G>T
Surrounding Variants
1 paper
NM_017439.4
p.H161Q
c.483T>G
1 paper
NM_017439.4
p.H161Q
c.483T>A
1 paper
NM_017439.4
p.H157Y
c.469C>T
1 paper
NM_017439.4
p.V192_V193Splc
c.577-2A>T
1 paper
NM_017439.4
p.V193G
c.578T>G
1 paper
NM_017439.4
p.S197F
c.590C>T
1 paper
NM_017439.4
p.S197C
c.590C>G
1 paper
NM_017439.4
p.K227T
c.680A>C
1 paper
NM_017439.4
p.R274*
c.820C>T
1 paper
NM_017439.4
p.K279R
c.836A>G
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