Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.M12L

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.M12L
c.34A>T
Surrounding Variants
1 paper
NM_012104.6
p.M12insFs
c.34_35ins7
1 paper
NM_012104.6
p.L10P
c.29T>C
1 paper
NM_012104.6
p.A14_G15insT
c.40_44ins3
1 paper
NM_012104.6
p.G15R
c.43G>C
1 paper
NM_012104.6
p.G15R
c.43G>A
1 paper
NM_012104.6
p.L17R
c.50T>G
1 paper
NM_012104.6
p.L17P
c.50T>C
1 paper
NM_012104.6
p.P6H
c.17C>A
1 paper
NM_012104.6
p.P6T
c.16C>A
1 paper
NM_012104.6
p.L5insFs
c.14_15insT
1 paper
NM_012104.6
p.A2A
c.6C>T
1 paper
NM_012104.6
p.A2A
c.6C>A
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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."