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

1 paper

NM_000484.4

p.I718M

c.2154C>G

Surrounding Variants

1 paper

NM_000484.4

p.T719A

c.2155A>G

15 papers

NM_000484.4

p.T719P

c.2155A>C

13 papers

NM_000484.4

p.T719N

c.2156C>A

1 paper

NM_000484.4

p.I718F

c.2152A>T

6 papers

NM_000484.4

p.I718L

c.2152A>C

NM_201414.3

p.I643L

c.1927A>C

66 papers

NM_000484.4

p.V717G

c.2150T>G

3 papers

NM_000484.4

p.V717A

c.2150T>C

NM_201414.3

p.V642A

c.1925T>C

1 paper

NM_000484.4

p.L720L

c.2158T>C

5 papers

NM_000484.4

p.L720S

c.2159T>C

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

569 papers

NM_000484.4

p.V717I

c.2149G>A

NM_201413.3

p.V698I

c.2092G>A

NM_201414.3

p.V642I

c.1924G>A