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.A235insFs

c.704_705insG

Surrounding Variants

9 papers

NM_000484.4

p.A235V

c.704C>T

1 paper

NM_000484.4

p.V234L

c.700G>C

5 papers

NM_000484.4

p.V234M

c.700G>A

1 paper

NM_000484.4

p.E236E

c.708G>A

1 paper

NM_000484.4

p.V237L

c.709G>T

1 paper

NM_000484.4

p.V237M

c.709G>A

1 paper

NM_000484.4

p.V237G

c.710T>G

2 papers

NM_000484.4

p.E233G

c.698A>G

1 paper

NM_000484.4

p.E233*

c.697G>T

1 paper

NM_000484.4

p.E233K

c.697G>A

56 papers

NM_000484.4

p.E238V

c.713A>T

1 paper

NM_000484.4

p.E238A

c.713A>C