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.K340E

c.1018A>G

Surrounding Variants

1 paper

NM_001024807.3

p.N337D

c.1009A>G

1 paper

NM_001024807.3

p.A333D

c.998C>A

1 paper

NM_001024807.3

p.R330H

c.989G>A

1 paper

NM_001024807.3

p.R330S

c.988C>A

3 papers

NM_001024807.3

p.R330C

c.988C>T

1 paper

NM_001024807.3

p.E352_H353Splc

c.1056+5G>A

1 paper

NM_001024807.3

p.R369Q

c.1106G>A

1 paper

NM_001024807.3

p.R371C

c.1111C>T

1 paper

NM_001024807.3

p.R371H

c.1112G>A

1 paper

NM_001024807.3

p.R371R

c.1113C>T

1 paper

NM_001024807.3

p.D386Y

c.1156G>T

1 paper

NM_001024807.3

p.R388S

c.1162C>A