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.D248N

c.742G>A

Surrounding Variants

1 paper

NM_000484.4

p.D248insFs

c.742_743insTT

2 papers

NM_000484.4

p.E249G

c.746A>G

1 paper

NM_000484.4

p.E246insFs

c.736_737insAT

1 paper

NM_000484.4

p.E246Q

c.736G>C

7 papers

NM_000484.4

p.E246K

c.736G>A

1 paper

NM_000484.4

p.D250N

c.748G>A

1 paper

NM_000484.4

p.D245D

c.735C>T

4 papers

NM_000484.4

p.G251S

c.751G>A

1 paper

NM_000484.4

p.D245N

c.733G>A

1 paper

NM_000484.4

p.D244E

c.732T>G

1 paper

NM_000484.4

p.D244E

c.732T>A

1 paper

NM_000484.4

p.G251A

c.752G>C