Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.L455F

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.L455F
c.1363C>T
Surrounding Variants
1 paper
NM_012104.6
p.P448_M456del9
c.1342_1367del27
1 paper
NM_012104.6
p.E452A
c.1355A>C
1 paper
NM_012104.6
p.D451E
c.1353T>G
1 paper
NM_012104.6
p.D451E
c.1353T>A
1 paper
NM_012104.6
p.Y445*
c.1335C>G
1 paper
NM_012104.6
p.Y445*
c.1335C>A
1 paper
NM_012104.6
p.C443S
c.1328G>C
1 paper
NM_012104.6
p.C443S
c.1327T>A
2 papers
NM_012104.6
p.M470L
c.1408A>T
2 papers
NM_012104.6
p.M470L
c.1408A>C
1 paper
NM_012104.6
p.T437N
c.1310C>A
2 papers
NM_012104.6
p.M476T
c.1427T>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."