Varaico: Literature-Extracted Genetic Variants

APLP1

189 papers

RefSeq Summary

This gene encodes a member of the highly conserved amyloid precursor protein gene family. The encoded protein is a membrane-associated glycoprotein that is cleaved by secretases in a manner similar to...

Pfam Domains

APP_Naa 53–154UCSCAmyloid A4 N-terminal heparin-binding

APP_Cu_bdaa 155–211UCSCCopper-binding of amyloid precursor, CuBD

APP_E2aa 285–467UCSCE2 domain of amyloid precursor protein

APP_amyloidaa 596–647UCSCBeta-amyloid precursor protein C-terminus

Gene Aliases

HGNC Name

amyloid beta precursor like protein 1

HGNC Previous Name

amyloid beta (A4) precursor-like protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001024807.3

p.C128S

c.383G>C

Surrounding Variants

1 paper

NM_001024807.3

p.C128S

c.382T>A

1 paper

NM_001024807.3

p.H133P

c.398A>C

1 paper

NM_001024807.3

p.V135F

c.403G>T

1 paper

NM_001024807.3

p.C120W

c.360C>G

1 paper

NM_001024807.3

p.C120F

c.359G>T

1 paper

NM_001024807.3

p.L141P

c.422T>C

1 paper

NM_001024807.3

p.T111T

c.333G>A

2 papers

NM_001024807.3

p.R106G

c.316C>G

1 paper

NM_001024807.3

p.Q97_M98Splc

c.292-1G>A

1 paper

NM_001024807.3

p.V146A

c.437T>C

1 paper

NM_001024807.3

p.E148V

c.443A>T

1 paper

NM_001024807.3

p.E148D

c.444G>C