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.H684R

c.2051A>G

Surrounding Variants

1 paper

NM_000484.4

p.H684Y

c.2050C>T

1 paper

NM_000484.4

p.V683I

c.2047G>A

2 papers

NM_000484.4

p.E682V

c.2045A>T

1 paper

NM_000484.4

p.E682G

c.2045A>G

1 paper

NM_000484.4

p.E682Q

c.2044G>C

37 papers

NM_000484.4

p.E682K

c.2044G>A

1 paper

NM_000484.4

p.Y681*

c.2043T>G

1 paper

NM_000484.4

p.Y681*

c.2043T>A

9 papers

NM_000484.4

p.K687Q

c.2059A>C

1 paper

NM_000484.4

p.Y681F

c.2042A>T

20 papers

NM_000484.4

p.K687N

c.2061A>T

20 papers

NM_000484.4

p.K687N

c.2061A>C