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.L28P

c.83T>C

Surrounding Variants

1 paper

NM_000484.4

p.L28_L29insFs

c.84_85insT

1 paper

NM_000484.4

p.L28V

c.82C>G

1 paper

NM_000484.4

p.L28insFs

c.84dupG

1 paper

NM_000484.4

p.L29M

c.85C>A

1 paper

NM_000484.4

p.G27A

c.80G>C

1 paper

NM_000484.4

p.A26_G27insFs

c.78_79insT

1 paper

NM_000484.4

p.G27R

c.79G>C

1 paper

NM_000484.4

p.G27S

c.79G>A

1 paper

NM_000484.4

p.A26_G27insFs

c.78_79insCA

1 paper

NM_000484.4

p.A26A

c.78T>A

1 paper

NM_000484.4

p.A30_E31insG

c.88_92ins3

19 papers

NM_000484.4

p.A30P

c.88G>C