Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.D491H

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.D491H
c.1471G>C
Surrounding Variants
1 paper
NM_012104.6
p.D491A
c.1472A>C
1 paper
NM_012104.6
p.D492A
c.1475A>C
1 paper
NM_012104.6
p.D495A
c.1484A>C
1 paper
NM_012104.6
p.D496A
c.1487A>C
8 papers
NM_012104.6
p.S498A
c.1492T>G
1 paper
NM_012104.6
p.R481C
c.1441C>T
4 papers
NM_012104.6
p.K501R
c.1502A>G
2 papers
NM_012104.6
p.M476T
c.1427T>C
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.P448_M456del9
c.1342_1367del27
1 paper
NM_012104.6
p.L455F
c.1363C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."