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.E67K

c.199G>A

Surrounding Variants

1 paper

NM_000484.4

p.E67insFs

c.199_200insTT

2 papers

NM_000484.4

p.E67D

c.201A>T

1 paper

NM_000484.4

p.K66M

c.197A>T

1 paper

NM_000484.4

p.G68S

c.202G>A

2 papers

NM_000484.4

p.K66*

c.196A>T

2 papers

NM_000484.4

p.K66E

c.196A>G

1 paper

NM_000484.4

p.K66_E67insG

c.196_200ins3

1 paper

NM_000484.4

p.T65delFs

c.194delG

1 paper

NM_000484.4

p.G68V

c.203G>T

1 paper

NM_000484.4

p.G68insFs

c.203_204insC

2 papers

NM_000484.4

p.G68A

c.203G>C

1 paper

NM_000484.4

p.G68D

c.203G>A