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

3 papers

NM_001136129.3

p.T224del1

c.670_671delTGT

NM_000484.4

p.T280del1

c.838_839delTGT

Surrounding Variants

1 paper

NM_000484.4

p.T280ins1

c.839_840insCAC

1 paper

NM_000484.4

p.E281Q

c.841G>C

4 papers

NM_000484.4

p.E281K

c.841G>A

2 papers

NM_000484.4

p.T279_T280del1

c.837_839delGTG

1 paper

NM_000484.4

p.T280R

c.839C>G

1 paper

NM_000484.4

p.S282insFs

c.844_845insC

1 paper

NM_000484.4

p.T280A

c.838A>G

1 paper

NM_000484.4

p.S282delFs

c.845_846delAG

1 paper

NM_000484.4

p.T278T

c.834C>G

1 paper

NM_000484.4

p.T278I

c.833C>T

1 paper

NM_000484.4

p.E284K

c.850G>A

1 paper

NM_000484.4

p.T277insFs

c.829_830insA