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

Selected Variant

1 paper

NM_002581.5

p.G20R

c.58G>C

Surrounding Variants

1 paper

NM_002581.5

p.G20R

c.58G>A

1 paper

NM_002581.5

p.G20_L21ins1

c.60_61insAGC

2 papers

NM_002581.5

p.L17P

c.50T>C

1 paper

NM_002581.5

p.R24G

c.70C>G

1 paper

NM_002581.5

p.V7E

c.20T>A

1 paper

NM_002581.5

p.V7insFs

c.20dupT

1 paper

NM_002581.5

p.R2W

c.4C>T

1 paper

NM_002581.5

p.M1insFs

c.2dupT

1 paper

NM_002581.5

p.P44P

c.132G>A

1 paper

NM_002581.5

p.G54D

c.161G>A

1 paper

NM_002581.5

p.R55R

c.165C>G

1 paper

NM_002581.5

p.A57V

c.170C>T