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.A499S

c.1495G>T

Surrounding Variants

1 paper

NM_001024807.3

p.P498L

c.1493C>T

1 paper

NM_001024807.3

p.G509V

c.1526G>T

1 paper

NM_001024807.3

p.Q511H

c.1533G>C

1 paper

NM_001024807.3

p.Q511H

c.1533G>T

1 paper

NM_001024807.3

p.M522K

c.1565T>A

1 paper

NM_001024807.3

p.A553V

c.1658C>T

3 papers

NM_001024807.3

p.P479A

c.1435C>G

1 paper

NM_001024807.3

p.P471S

c.1411C>T

1 paper

NM_001024807.3

p.L467P

c.1400T>C

1 paper

NM_001024807.3

p.A574V

c.1721C>T

1 paper

NM_001024807.3

p.R580H

c.1739G>A

1 paper

NM_001024807.3

p.L586L

c.1758G>A