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

61 papers

NM_000484.4

p.V715M

c.2143G>A

Surrounding Variants

33 papers

NM_000484.4

p.V715A

c.2144T>C

78 papers

NM_000484.4

p.T714I

c.2141C>T

91 papers

NM_000484.4

p.I716F

c.2146A>T

NM_201414.3

p.I641F

c.1921A>T

197 papers

NM_000484.4

p.I716V

c.2146A>G

NM_201414.3

p.I641V

c.1921A>G

38 papers

NM_000484.4

p.T714A

c.2140A>G

1 paper

NM_000484.4

p.T714P

c.2140A>C

23 papers

NM_000484.4

p.I716T

c.2147T>C

13 papers

NM_000484.4

p.A713V

c.2138C>T

14 papers

NM_000484.4

p.I716M

c.2148C>G

489 papers

NM_000484.4

p.V717F

c.2149G>T

NM_201414.3

p.V642F

c.1924G>T

85 papers

NM_000484.4

p.V717L

c.2149G>C

2 papers

NM_000484.4

p.A713P

c.2137G>C