Varaico: Literature-Extracted Genetic Variants

Gene:GSAP

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
1–12 of 50 variants
6 papers
NM_017439.4
p.H47R
c.140A>G
2 papers
NM_017439.4
p.W653L
c.1958G>T
1 paper
NM_017439.4
p.A2insFs
c.6dupT
1 paper
NM_017439.4
p.A2delFs
c.6delA
1 paper
NM_017439.4
p.V25A
c.74T>C
1 paper
NM_017439.4
p.V38fs
c.112_113fs
1 paper
NM_017439.4
p.H47Q
c.141T>A
1 paper
NM_017439.4
p.K62K
c.186G>A
1 paper
NM_017439.4
p.H157Y
c.469C>T
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.Y176Splc
c.527-1G>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."