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

1–12 of 127 variants

4 papers

NM_001024807.3

p.T215S

c.643A>T

4 papers

NM_001024807.3

p.T215S

c.644C>G

3 papers

NM_001024807.3

p.R330C

c.988C>T

3 papers

NM_001024807.3

p.P479A

c.1435C>G

3 papers

NM_001024807.3

p.V617M

c.1849G>A

2 papers

NM_001024807.3

p.R106G

c.316C>G

2 papers

NM_001024807.3

p.R203C

c.607C>T

2 papers

NM_001024807.3

p.V223D

c.668T>A

2 papers

NM_001024807.3

p.G224Splc

c.672-1G>A

2 papers

NM_001024807.3

p.V437M

c.1309G>A

2 papers

NM_001024807.3

p.H615R

c.1844A>G

1 paper

NM_001024807.3

p.A4T

c.10G>A