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.I703V

c.2107A>G

Surrounding Variants

1 paper

NM_000484.4

p.I703F

c.2107A>T

1 paper

NM_000484.4

p.I703fs

c.2107_2108fs

1 paper

NM_000484.4

p.I702F

c.2104A>T

1 paper

NM_000484.4

p.G704A

c.2111G>C

1 paper

NM_000484.4

p.A701G

c.2102C>G

1 paper

NM_000484.4

p.G704fs

c.2110_2111fs

31 papers

NM_000484.4

p.L705V

c.2113C>G

1 paper

NM_000484.4

p.L705P

c.2114T>C

5 papers

NM_000484.4

p.G700A

c.2099G>C

1 paper

NM_000484.4

p.L705L

c.2115C>T

1 paper

NM_000484.4

p.G700C

c.2098G>T

1 paper

NM_000484.4

p.K699E

c.2095A>G