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.V280M

c.838G>A

Surrounding Variants

1 paper

NM_001024807.3

p.P273T

c.817C>A

1 paper

NM_001024807.3

p.E264K

c.790G>A

1 paper

NM_001024807.3

p.V258M

c.772G>A

1 paper

NM_001024807.3

p.D254H

c.760G>C

1 paper

NM_001024807.3

p.P233L

c.698C>T

1 paper

NM_001024807.3

p.P232L

c.695C>T

2 papers

NM_001024807.3

p.G224Splc

c.672-1G>A

2 papers

NM_001024807.3

p.V223D

c.668T>A

1 paper

NM_001024807.3

p.S219Y

c.656C>A

4 papers

NM_001024807.3

p.T215S

c.644C>G

4 papers

NM_001024807.3

p.T215S

c.643A>T

1 paper

NM_001024807.3

p.P213S

c.637C>T