Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.E138D

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.E138D
c.414A>T
Surrounding Variants
1 paper
NM_012104.6
p.E138D
c.414A>C
1 paper
NM_012104.6
p.G139E
c.416G>A
1 paper
NM_012104.6
p.E140K
c.418G>A
1 paper
NM_012104.6
p.G142G
c.426C>G
1 paper
NM_012104.6
p.S147N
c.440G>A
3 papers
NM_012104.6
p.V128V
c.384G>A
2 papers
NM_012104.6
p.P149L
c.446C>T
1 paper
NM_012104.6
p.H150_P152del0
c.448_456del9
1 paper
NM_012104.6
p.N153T
c.458A>C
1 paper
NM_012104.6
p.D123E
c.369C>G
1 paper
NM_012104.6
p.R122fs
c.364_365fs
1 paper
NM_012104.6
p.R157C
c.469C>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."