Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.P29T

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.P29T
c.85C>A
Surrounding Variants
2 papers
NM_012104.6
p.L28Q
c.83T>A
2 papers
NM_012104.6
p.L30Q
c.89T>A
1 paper
NM_012104.6
p.R27W
c.79C>T
1 paper
NM_012104.6
p.R31G
c.91C>G
1 paper
NM_012104.6
p.R31R
c.93C>A
1 paper
NM_012104.6
p.I26V
c.76A>G
1 paper
NM_012104.6
p.S32_G33delFs
c.96_97delCG
1 paper
NM_012104.6
p.Q23_H24delFs
c.67_70del4
1 paper
NM_012104.6
p.L34_G35ins7
c.100_104ins21
1 paper
NM_012104.6
p.P38L
c.113C>T
1 paper
NM_012104.6
p.L17R
c.50T>G
1 paper
NM_012104.6
p.L17P
c.50T>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."