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.K60Q

c.178A>C

Surrounding Variants

1 paper

NM_000484.4

p.T59delFs

c.176delG

1 paper

NM_000484.4

p.T59I

c.176C>T

1 paper

NM_000484.4

p.T59S

c.175A>T

2 papers

NM_000484.4

p.T59A

c.175A>G

1 paper

NM_000484.4

p.G58delFs

c.173_174delCC

2 papers

NM_000484.4

p.G58A

c.173G>C

3 papers

NM_000484.4

p.C62Y

c.185G>A

1 paper

NM_000484.4

p.C62delFs

c.184delA

3 papers

NM_000484.4

p.S57S

c.171A>T

1 paper

NM_000484.4

p.P56_S57delFs

c.167_170del4

1 paper

NM_000484.4

p.S57T

c.169T>A

1 paper

NM_000484.4

p.I63F

c.187A>T