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

15 papers

NM_000484.4

p.M722K

c.2165T>A

Surrounding Variants

3 papers

NM_000484.4

p.L723R

c.2168T>G

1 paper

NM_000484.4

p.V721G

c.2162T>G

51 papers

NM_000484.4

p.L723P

c.2168T>C

5 papers

NM_000484.4

p.L720S

c.2159T>C

11 papers

NM_000484.4

p.K724M

c.2171A>T

1 paper

NM_000484.4

p.K724R

c.2171A>G

1 paper

NM_000484.4

p.L720L

c.2158T>C

27 papers

NM_000484.4

p.K724N

c.2172G>T

27 papers

NM_000484.4

p.K724N

c.2172G>C

13 papers

NM_000484.4

p.T719N

c.2156C>A

1 paper

NM_000484.4

p.K725R

c.2174A>G

1 paper

NM_000484.4

p.M722_K724del3

c.2164_2171del9