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.F675C

c.2024T>G

Surrounding Variants

1 paper

NM_000484.4

p.R676*

c.2026C>T

1 paper

NM_000484.4

p.R676G

c.2026C>G

1 paper

NM_000484.4

p.R676R

c.2026C>A

1 paper

NM_000484.4

p.E674G

c.2021A>G

1 paper

NM_000484.4

p.E674A

c.2021A>C

6 papers

NM_000484.4

p.E674Q

c.2020G>C

4 papers

NM_000484.4

p.E674K

c.2020G>A

110 papers

NM_000484.4

p.A673V

c.2018C>T

18 papers

NM_000484.4

p.H677R

c.2030A>G

221 papers

NM_000484.4

p.A673T

c.2017G>A

1 paper

NM_000484.4

p.D672E

c.2016T>G

1 paper

NM_000484.4

p.D672E

c.2016T>A