Varaico: Literature-Extracted Genetic Variants

APLP2

109 papers

RefSeq Summary

This gene encodes amyloid precursor- like protein 2 (APLP2), which is a member of the APP (amyloid precursor protein) family including APP, APLP1 and APLP2. This protein is ubiquitously expressed. It ...

Pfam Domains

APP_Naa 49–147UCSCAmyloid A4 N-terminal heparin-binding

APP_Cu_bdaa 148–204UCSCCopper-binding of amyloid precursor, CuBD

Kunitz_BPTIaa 309–361UCSCKunitz/Bovine pancreatic trypsin inhibitor domain

APP_E2aa 365–547UCSCE2 domain of amyloid precursor protein

Gene Aliases

HGNC Name

amyloid beta precursor like protein 2

HGNC Alias Symbol

APPH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142276.2

p.M1R

c.2T>G

Surrounding Variants

1 paper

NM_001142276.2

p.G5insFs

c.14_15insT

1 paper

NM_001142276.2

p.G5G

c.15G>A

1 paper

NM_001142276.2

p.A8A

c.24C>T

1 paper

NM_001142276.2

p.R14_L15insT

c.40_44ins3

1 paper

NM_001142276.2

p.L20L

c.58C>T

1 paper

NM_001142276.2

p.E35_A36Splc

c.105+556C>G