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.E97K

c.289G>A

Surrounding Variants

1 paper

NM_001142276.2

p.E97E

c.291G>A

1 paper

NM_001142276.2

p.A106P

c.316G>C

1 paper

NM_001142276.2

p.R109Q

c.326G>A

1 paper

NM_001142276.2

p.R117Q

c.350G>A

1 paper

NM_001142276.2

p.C123Y

c.368G>A

1 paper

NM_001142276.2

p.F127I

c.379T>A

1 paper

NM_001142276.2

p.C133fs

c.397_398fs

1 paper

NM_001142276.2

p.T75I

c.224C>T

1 paper

NM_001142276.2

p.N64S

c.191A>G

1 paper

NM_001142276.2

p.E49D

c.147G>T

1 paper

NM_001142276.2

p.E35_A36Splc

c.106-7479C>T