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.S54S

c.162A>T

Surrounding Variants

2 papers

NM_000484.4

p.D55insFs

c.163_164insA

1 paper

NM_000484.4

p.S54L

c.161C>T

1 paper

NM_000484.4

p.P56Q

c.167C>A

1 paper

NM_000484.4

p.W52C

c.156G>C

1 paper

NM_000484.4

p.W52*

c.156G>A

1 paper

NM_000484.4

p.P56insFs

c.167_168insC

1 paper

NM_000484.4

p.S57T

c.169T>A

1 paper

NM_000484.4

p.W52S

c.155G>C

1 paper

NM_000484.4

p.W52*

c.155G>A

1 paper

NM_000484.4

p.K51N

c.153G>T

1 paper

NM_000484.4

p.K51N

c.153G>C

3 papers

NM_000484.4

p.S57S

c.171A>T