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.K260M

c.779A>T

Surrounding Variants

1 paper

NM_002581.5

p.W259*

c.777G>A

1 paper

NM_002581.5

p.W259*

c.776G>A

2 papers

NM_002581.5

p.N246Y

c.736A>T

1 paper

NM_002581.5

p.M239I

c.717G>A

1 paper

NM_002581.5

p.K234T

c.701A>C

1 paper

NM_002581.5

p.G226R

c.676G>C

1 paper

NM_002581.5

p.S298C

c.893C>G

1 paper

NM_002581.5

p.E222K

c.664G>A

1 paper

NM_002581.5

p.D302N

c.904G>A

1 paper

NM_002581.5

p.K209N

c.627G>C

1 paper

NM_002581.5

p.K209N

c.627G>T

1 paper

NM_002581.5

p.V197insFs

c.591dupA