Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.E280A

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
3 papers
NM_012104.6
p.E280A
c.839A>C
Surrounding Variants
1 paper
NM_012104.6
p.C278S
c.833G>C
1 paper
NM_012104.6
p.C278S
c.832T>A
1 paper
NM_012104.6
p.K275R
c.824A>G
3 papers
NM_012104.6
p.V262V
c.786G>C
1 paper
NM_012104.6
p.E257Q
c.769G>C
1 paper
NM_012104.6
p.R256W
c.766C>T
1 paper
NM_012104.6
p.I240N
c.719T>A
2 papers
NM_012104.6
p.M235T
c.704T>C
1 paper
NM_012104.6
p.A229T
c.685G>A
1 paper
NM_012104.6
p.C216S
c.647G>C
1 paper
NM_012104.6
p.C216S
c.646T>A
1 paper
NM_012104.6
p.L215P
c.644T>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."