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.A4T

c.10G>A

Surrounding Variants

1 paper

NM_001024807.3

p.A4S

c.10G>T

1 paper

NM_001024807.3

p.A4D

c.11C>A

1 paper

NM_001024807.3

p.S5insFs

c.14_15insT

1 paper

NM_001024807.3

p.A7G

c.20C>G

1 paper

NM_001024807.3

p.R9C

c.25C>T

1 paper

NM_001024807.3

p.R9R

c.27C>A

1 paper

NM_001024807.3

p.G10A

c.29G>C

1 paper

NM_001024807.3

p.L11I

c.31C>A

1 paper

NM_001024807.3

p.R14_P15insT

c.40_44ins3

1 paper

NM_001024807.3

p.P21_L22insFs

c.63_64ins13

1 paper

NM_001024807.3

p.L26L

c.78A>G

1 paper

NM_001024807.3

p.L31V

c.91C>G