Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.S96_S97del2

BACE1

272 papers

RefSeq Summary

This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteol...

Pfam Domains

Aspaa 1–184UCSCEukaryotic aspartyl protease
Aspaa 74–418UCSCEukaryotic aspartyl protease

Gene Aliases

HGNC Name

beta-secretase 1

HGNC Alias Symbol

Asp2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012104.6
p.S96_S97del2
c.286_290del6
Surrounding Variants
3 papers
NM_012104.6
p.D93A
c.278A>C
1 paper
NM_012104.6
p.I90N
c.269T>A
1 paper
NM_012104.6
p.H106P
c.317A>C
1 paper
NM_012104.6
p.H106fs
c.316_317fs
2 papers
NM_012104.6
p.H110Y
c.328C>T
1 paper
NM_012104.6
p.R115K
c.344G>A
1 paper
NM_012104.6
p.L117Splc
c.351-71G>A
1 paper
NM_012104.6
p.R122fs
c.364_365fs
1 paper
NM_012104.6
p.D123E
c.369C>G
3 papers
NM_012104.6
p.V128V
c.384G>A
1 paper
NM_012104.6
p.E138D
c.414A>T
1 paper
NM_012104.6
p.E138D
c.414A>C
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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."