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

4 papers

NM_001024807.3

p.T215S

c.644C>G

Surrounding Variants

4 papers

NM_001024807.3

p.T215S

c.643A>T

1 paper

NM_001024807.3

p.P213S

c.637C>T

1 paper

NM_001024807.3

p.S219Y

c.656C>A

1 paper

NM_001024807.3

p.Y207*

c.621T>A

1 paper

NM_001024807.3

p.Y207*

c.621T>G

2 papers

NM_001024807.3

p.V223D

c.668T>A

1 paper

NM_001024807.3

p.E206A

c.617A>C

1 paper

NM_001024807.3

p.R203H

c.608G>A

1 paper

NM_001024807.3

p.R203S

c.607C>A

2 papers

NM_001024807.3

p.R203C

c.607C>T

1 paper

NM_001024807.3

p.P196H

c.587C>A

2 papers

NM_001024807.3

p.G224Splc

c.672-1G>A