Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.L41Q

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.L41Q
c.122T>A
Surrounding Variants
1 paper
NM_012104.6
p.P38L
c.113C>T
1 paper
NM_012104.6
p.R45P
c.134G>C
1 paper
NM_012104.6
p.E46K
c.136G>A
1 paper
NM_012104.6
p.L34_G35ins7
c.100_104ins21
1 paper
NM_012104.6
p.E49K
c.145G>A
1 paper
NM_012104.6
p.S32_G33delFs
c.96_97delCG
1 paper
NM_012104.6
p.R31R
c.93C>A
1 paper
NM_012104.6
p.R31G
c.91C>G
2 papers
NM_012104.6
p.L30Q
c.89T>A
1 paper
NM_012104.6
p.E53K
c.157G>A
1 paper
NM_012104.6
p.E53A
c.158A>C
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."