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

10 papers

NM_000484.4

p.E693D

c.2079A>C

Surrounding Variants

11 papers

NM_000484.4

p.E693D

c.2079A>T

129 papers

NM_000484.4

p.D694N

c.2080G>A

287 papers

NM_000484.4

p.E693G

c.2078A>G

NM_201414.3

p.E618G

c.1853A>G

8 papers

NM_000484.4

p.E693A

c.2078A>C

1 paper

NM_000484.4

p.E693_D694insG

c.2077_2081ins3

226 papers

NM_000484.4

p.E693Q

c.2077G>C

87 papers

NM_000484.4

p.E693K

c.2077G>A

1 paper

NM_000484.4

p.D694D

c.2082T>C

26 papers

NM_000484.4

p.E693del1

c.2077_2078delTTC

3 papers

NM_000484.4

p.V695M

c.2083G>A

3 papers

NM_000484.4

p.A692V

c.2075C>T

NM_201413.3

p.A673V

c.2018C>T

125 papers

NM_000484.4

p.A692G

c.2075C>G