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.E231fs

c.691_692fs

Surrounding Variants

1 paper

NM_001142276.2

p.D232Y

c.694G>T

1 paper

NM_001142276.2

p.D228E

c.684T>A

1 paper

NM_001142276.2

p.D228E

c.684T>G

2 papers

NM_001142276.2

p.E226D

c.678G>C

2 papers

NM_001142276.2

p.E226D

c.678G>T

1 paper

NM_001142276.2

p.Y236C

c.707A>G

1 paper

NM_001142276.2

p.D220E

c.660T>A

1 paper

NM_001142276.2

p.D220E

c.660T>G

1 paper

NM_001142276.2

p.P204A

c.610C>G

1 paper

NM_001142276.2

p.E199K

c.595G>A

1 paper

NM_001142276.2

p.Q194E

c.580C>G

1 paper

NM_001142276.2

p.Y182C

c.545A>G