Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.L67_K70del4

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.L67_K70del4
c.199_209del12
Surrounding Variants
1 paper
NM_012104.6
p.S71L
c.212C>T
1 paper
NM_012104.6
p.R68S
c.204G>T
1 paper
NM_012104.6
p.N66D
c.196A>G
1 paper
NM_012104.6
p.D65N
c.193G>A
1 paper
NM_012104.6
p.M63T
c.188T>C
1 paper
NM_012104.6
p.F60L
c.178T>C
1 paper
NM_012104.6
p.G58S
c.172G>A
1 paper
NM_012104.6
p.P84A
c.250C>G
1 paper
NM_012104.6
p.R57K
c.170G>A
1 paper
NM_012104.6
p.G55G
c.165C>T
1 paper
NM_012104.6
p.P54H
c.161C>A
1 paper
NM_012104.6
p.E53D
c.159G>T
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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."