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

4 papers

NM_000484.4

p.H733P

c.2198A>C

Surrounding Variants

1 paper

NM_000484.4

p.H732fs

c.2194_2195fs

1 paper

NM_000484.4

p.V736L

c.2206G>C

1 paper

NM_000484.4

p.V736A

c.2207T>C

1 paper

NM_000484.4

p.S730C

c.2189C>G

1 paper

NM_000484.4

p.E737K

c.2209G>A

1 paper

NM_000484.4

p.Y728delFs

c.2184delG

1 paper

NM_000484.4

p.Y728_T729insFs

c.2184_2185insA

1 paper

NM_000484.4

p.K726R

c.2177A>G

1 paper

NM_000484.4

p.K726insFs

c.2176_2177insC

1 paper

NM_000484.4

p.K725insFs

c.2174_2175insA

1 paper

NM_000484.4

p.K725R

c.2174A>G

1 paper

NM_000484.4

p.M722_K724del3

c.2164_2171del9