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

6 papers

NM_000484.4

p.Q33*

c.97C>T

Surrounding Variants

1 paper

NM_000484.4

p.Q33R

c.98A>G

1 paper

NM_000484.4

p.P32L

c.95C>T

1 paper

NM_000484.4

p.P32S

c.94C>T

2 papers

NM_000484.4

p.I34V

c.100A>G

1 paper

NM_000484.4

p.I34T

c.101T>C

3 papers

NM_000484.4

p.I34I

c.102T>C

1 paper

NM_000484.4

p.A35S

c.103G>T

1 paper

NM_000484.4

p.E31insFs

c.91_92insC

1 paper

NM_000484.4

p.E31K

c.91G>A

1 paper

NM_000484.4

p.A30_E31insFs

c.90_91ins4

2 papers

NM_000484.4

p.A35D

c.104C>A

1 paper

NM_000484.4

p.A30G

c.89C>G