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.T22T

c.66T>A

Surrounding Variants

1 paper

NM_000484.4

p.T22_D23insFs

c.66_67insG

3 papers

NM_000484.4

p.D23Y

c.67G>T

1 paper

NM_000484.4

p.D23H

c.67G>C

103 papers

NM_000484.4

p.D23N

c.67G>A

1 paper

NM_000484.4

p.T22S

c.65C>G

1 paper

NM_000484.4

p.T22insFs

c.65_66insG

1 paper

NM_000484.4

p.T22N

c.65C>A

1 paper

NM_000484.4

p.D23V

c.68A>T

2 papers

NM_000484.4

p.D23G

c.68A>G

1 paper

NM_000484.4

p.T22A

c.64A>G

2 papers

NM_000484.4

p.D23A

c.68A>C

1 paper

NM_000484.4

p.P21P

c.63C>G