Varaico: Literature-Extracted Genetic Variants

APP

3,873 papers

RefSeq Summary

This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyl...

Pfam Domains

APP_Naa 31–131UCSCAmyloid A4 N-terminal heparin-binding

APP_Cu_bdaa 132–188UCSCCopper-binding of amyloid precursor, CuBD

Kunitz_BPTIaa 290–342UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

APP_E2aa 366–548UCSCE2 domain of amyloid precursor protein

Beta-APPaa 676–713UCSCBeta-amyloid peptide (beta-APP)

APP_amyloidaa 716–766UCSCBeta-amyloid precursor protein C-terminus

Gene Aliases

HGNC Name

amyloid beta precursor protein

HGNC Previous Symbol

AD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000484.4

p.D672E

c.2016T>G

Surrounding Variants

1 paper

NM_000484.4

p.D672E

c.2016T>A

221 papers

NM_000484.4

p.A673T

c.2017G>A

1 paper

NM_000484.4

p.D672G

c.2015A>G

2 papers

NM_000484.4

p.D672N

c.2014G>A

110 papers

NM_000484.4

p.A673V

c.2018C>T

1 paper

NM_000484.4

p.M671I

c.2013G>T

1 paper

NM_000484.4

p.M671I

c.2013G>C

1 paper

NM_000484.4

p.M671I

c.2013G>A

6 papers

NM_000484.4

p.E674Q

c.2020G>C

4 papers

NM_000484.4

p.E674K

c.2020G>A

569 papers

NM_000484.4

p.M671L

c.2011A>T

NM_201414.3

p.M596L

c.1786A>T

3 papers

NM_000484.4

p.M671V

c.2011A>G