Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.D289N

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
4 papers
NM_012104.6
p.D289N
c.865G>A
Surrounding Variants
2 papers
NM_012104.6
p.D289A
c.866A>C
1 paper
NM_012104.6
p.I287T
c.860T>C
1 paper
NM_012104.6
p.R296C
c.886C>T
1 paper
NM_012104.6
p.K299R
c.896A>G
1 paper
NM_012104.6
p.F302L
c.904T>C
1 paper
NM_012104.6
p.F302L
c.906T>G
1 paper
NM_012104.6
p.F302L
c.906T>A
1 paper
NM_012104.6
p.S314_T315Splc
c.942+1G>A
1 paper
NM_012104.6
p.T315M
c.944C>T
1 paper
NM_012104.6
p.P319L
c.956C>T
1 paper
NM_012104.6
p.F322insFs
c.965_966insC
1 paper
NM_012104.6
p.E326K
c.976G>A
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."