Varaico: Literature-Extracted Genetic Variants

Gene:GSAP
Variant:p.L609_M610Splc

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.L609_M610Splc
c.1827+1G>A
Surrounding Variants
1 paper
NM_017439.4
p.R604Q
c.1811G>A
1 paper
NM_017439.4
p.R591T
c.1772G>C
1 paper
NM_017439.4
p.L619fs
c.1855_1856fs
1 paper
NM_017439.4
p.V625A
c.1874T>C
1 paper
NM_017439.4
p.R549I
c.1646G>T
1 paper
NM_017439.4
p.F519_K534delFs
c.1555_1601del47
1 paper
NM_017439.4
p.E524_K525insFs
c.1572_1573ins19
1 paper
NM_017439.4
p.E524fs
c.1570_1571fs
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."