Varaico: Literature-Extracted Genetic Variants

Gene:BACE2
Variant:p.T155M

BACE2

90 papers

RefSeq Summary

This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in...

Pfam Domains

Aspaa 91–431UCSCEukaryotic aspartyl protease

Gene Aliases

HGNC Name

beta-secretase 2

HGNC Previous Symbol

AEPLC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012105.5
p.T155M
c.464C>T
Surrounding Variants
1 paper
NM_012105.5
p.G156S
c.466G>A
1 paper
NM_012105.5
p.K167R
c.500A>G
1 paper
NM_012105.5
p.R134R
c.402G>A
1 paper
NM_012105.5
p.I180T
c.539T>C
2 papers
NM_012105.5
p.E182*
c.544G>T
1 paper
NM_012105.5
p.E184Q
c.550G>C
1 paper
NM_012105.5
p.E212K
c.634G>A
1 paper
NM_012105.5
p.V227I
c.679G>A
1 paper
NM_012105.5
p.M230_P238del9
c.688_713del27
1 paper
NM_012105.5
p.M232T
c.695T>C
1 paper
NM_012105.5
p.G247C
c.739G>T
1 paper
NM_012105.5
p.L249_V250Splc
c.748-28T>C
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