Varaico: Literature-Extracted Genetic Variants

Gene:GSAP
Variant:p.P756S

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.P756S
c.2266C>T
Surrounding Variants
1 paper
NM_017439.4
p.R754W
c.2260C>T
1 paper
NM_017439.4
p.L725H
c.2174T>A
1 paper
NM_017439.4
p.P770L
c.2309C>T
1 paper
NM_017439.4
p.N779K
c.2337C>G
1 paper
NM_017439.4
p.N779K
c.2337C>A
1 paper
NM_017439.4
p.H780H
c.2340C>T
1 paper
NM_017439.4
p.Q791_P792Splc
c.2373+55G>A
2 papers
NM_017439.4
p.W653L
c.1958G>T
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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."