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.V514L

c.1540G>T

Surrounding Variants

1 paper

NM_001142276.2

p.V514L

c.1540G>C

1 paper

NM_001142276.2

p.A522T

c.1564G>A

2 papers

NM_001142276.2

p.R504L

c.1511G>T

1 paper

NM_001142276.2

p.E500fs

c.1498_1499fs

1 paper

NM_001142276.2

p.R495C

c.1483C>T

1 paper

NM_001142276.2

p.R494W

c.1480C>T

1 paper

NM_001142276.2

p.I489V

c.1465A>G

1 paper

NM_001142276.2

p.R485Q

c.1454G>A

1 paper

NM_001142276.2

p.A471P

c.1411G>C

1 paper

NM_001142276.2

p.R468H

c.1403G>A

1 paper

NM_001142276.2

p.R467C

c.1399C>T

1 paper

NM_001142276.2

p.E461Q

c.1381G>C