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.E440K

c.1318G>A

Surrounding Variants

2 papers

NM_001024807.3

p.V437M

c.1309G>A

1 paper

NM_001024807.3

p.H433Y

c.1297C>T

1 paper

NM_001024807.3

p.Q448_V449Splc

c.1344+4C>T

1 paper

NM_001024807.3

p.K422*

c.1264A>T

1 paper

NM_001024807.3

p.A419A

c.1257G>T

1 paper

NM_001024807.3

p.R418C

c.1252C>T

1 paper

NM_001024807.3

p.R415H

c.1244G>A

1 paper

NM_001024807.3

p.D402G

c.1205A>G

1 paper

NM_001024807.3

p.G394S

c.1180G>A

1 paper

NM_001024807.3

p.A390D

c.1169C>A

1 paper

NM_001024807.3

p.R388S

c.1162C>A

1 paper

NM_001024807.3

p.D386Y

c.1156G>T