Varaico: Literature-Extracted Genetic Variants

Gene:GSAP
Variant:p.K62K

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.K62K
c.186G>A
Surrounding Variants
1 paper
NM_017439.4
p.H47Q
c.141T>A
6 papers
NM_017439.4
p.H47R
c.140A>G
1 paper
NM_017439.4
p.V38fs
c.112_113fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."