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

1–12 of 1224 variants

567 papers

NM_000484.4

p.M671L

c.2011A>T

566 papers

NM_000484.4

p.V717I

c.2149G>A

565 papers

NM_000484.4

p.M671L

c.2011A>C

552 papers

NM_000484.4

p.K670N

c.2010G>T

549 papers

NM_000484.4

p.K670N

c.2010G>C

486 papers

NM_000484.4

p.V717F

c.2149G>T

286 papers

NM_000484.4

p.E693G

c.2078A>G

226 papers

NM_000484.4

p.E693Q

c.2077G>C

221 papers

NM_000484.4

p.A673T

c.2017G>A

196 papers

NM_000484.4

p.I716V

c.2146A>G

129 papers

NM_000484.4

p.D694N

c.2080G>A

125 papers

NM_000484.4

p.A692G

c.2075C>G