Varaico: Literature-Extracted Genetic Variants

Gene:BACE1

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
1–12 of 150 variants
8 papers
NM_012104.6
p.S498A
c.1492T>G
5 papers
NM_012104.6
p.A2T
c.4G>A
4 papers
NM_012104.6
p.D289N
c.865G>A
4 papers
NM_012104.6
p.K501R
c.1502A>G
3 papers
NM_012104.6
p.D93A
c.278A>C
3 papers
NM_012104.6
p.V128V
c.384G>A
3 papers
NM_012104.6
p.V262V
c.786G>C
3 papers
NM_012104.6
p.E280A
c.839A>C
2 papers
NM_012104.6
p.M1V
c.1A>G
2 papers
NM_012104.6
p.A2G
c.5C>G
2 papers
NM_012104.6
p.L28Q
c.83T>A
2 papers
NM_012104.6
p.L30Q
c.89T>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."