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.Y551C

c.1652A>G

Surrounding Variants

1 paper

NM_002581.5

p.M560delFs

c.1680delG

1 paper

NM_002581.5

p.E563A

c.1688A>C

1 paper

NM_002581.5

p.G569R

c.1705G>C

1 paper

NM_002581.5

p.V573I

c.1717G>A

2 papers

NM_002581.5

p.R575*

c.1723C>T

1 paper

NM_002581.5

p.R575Q

c.1724G>A

1 paper

NM_002581.5

p.G542Splc

c.1625-83C>G

1 paper

NM_002581.5

p.N604T

c.1811A>C

1 paper

NM_002581.5

p.P631S

c.1891C>T

1 paper

NM_002581.5

p.M636I

c.1908G>A

1 paper

NM_002581.5

p.M636I

c.1908G>C

1 paper

NM_002581.5

p.M636I

c.1908G>T