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

6 papers

NM_000484.4

p.V710G

c.2129T>G

Surrounding Variants

1 paper

NM_000484.4

p.V710A

c.2129T>C

1 paper

NM_000484.4

p.M706_V710delins

c.2117_2130delinsAGAAA

1 paper

NM_201414.3

p.V635L

c.1903G>C

1 paper

NM_000484.4

p.V711F

c.2131G>T

1 paper

NM_201414.3

p.V636L

c.1906G>C

1 paper

NM_201414.3

p.G634A

c.1901G>C

7 papers

NM_000484.4

p.G709S

c.2125G>A

4 papers

NM_000484.4

p.G708G

c.2124C>T

1 paper

NM_201414.3

p.I637L

c.1909A>T

1 paper

NM_201414.3

p.I637L

c.1909A>C

1 paper

NM_000484.4

p.G708A

c.2123G>C

1 paper

NM_000484.4

p.V707_G708insFs

c.2121_2122insT