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

2 papers

NM_000484.4

p.Q48*

c.142C>T

Surrounding Variants

1 paper

NM_000484.4

p.Q48E

c.142C>G

1 paper

NM_000484.4

p.R40_V47del8

c.118_140del24

1 paper

NM_000484.4

p.V47V

c.141C>A

1 paper

NM_000484.4

p.Q48R

c.143A>G

1 paper

NM_000484.4

p.V47A

c.140T>C

1 paper

NM_000484.4

p.V47F

c.139G>T

1 paper

NM_000484.4

p.G50R

c.148G>C

3 papers

NM_000484.4

p.N46D

c.136A>G

1 paper

NM_000484.4

p.G50E

c.149G>A

1 paper

NM_000484.4

p.M45K

c.134T>A

5 papers

NM_000484.4

p.M45L

c.133A>T

5 papers

NM_000484.4

p.M45L

c.133A>C