Varaico: Literature-Extracted Genetic Variants

PAPPA

219 papers

RefSeq Summary

This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to I...

Pfam Domains

Laminin_G_3aa 100–269UCSCConcanavalin A-like lectin/glucanases superfamily

Peptidase_M43aa 500–660UCSCPregnancy-associated plasma protein-A

PAPPAaa 711–880UCSCPappalysin-1, SD scarf domain, C-terminal

Sushiaa 1346–1412UCSCSushi repeat (SCR repeat)

Sushiaa 1415–1471UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

pappalysin 1

HGNC Alias Symbols

PAPP-A; PAPPA1; IGFBP-4ase; PAPA; ASBABP2; DIPLA1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 201 variants

6 papers

NM_002581.5

p.S1224Y

c.3671C>A

2 papers

NM_002581.5

p.L17P

c.50T>C

2 papers

NM_002581.5

p.E82*

c.244G>T

2 papers

NM_002581.5

p.N246Y

c.736A>T

2 papers

NM_002581.5

p.N342N

c.1026T>C

2 papers

NM_002581.5

p.H365N

c.1093C>A

2 papers

NM_002581.5

p.V449M

c.1345G>A

2 papers

NM_002581.5

p.R575*

c.1723C>T

2 papers

NM_002581.5

p.F1372Y

c.4115T>A

2 papers

NM_002581.5

p.L1451P

c.4352T>C

2 papers

NM_002581.5

p.E1483K

c.4447G>A

1 paper

NM_002581.5

p.M1insFs

c.2dupT