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.G438R

c.1312G>C

Surrounding Variants

1 paper

NM_002581.5

p.G438R

c.1312G>A

1 paper

NM_002581.5

p.G438W

c.1312G>T

1 paper

NM_002581.5

p.D439Y

c.1315G>T

1 paper

NM_002581.5

p.H442Y

c.1324C>T

1 paper

NM_002581.5

p.R444H

c.1331G>A

2 papers

NM_002581.5

p.V449M

c.1345G>A

1 paper

NM_002581.5

p.K450*

c.1348A>T

1 paper

NM_002581.5

p.C424_E427del4

c.1270_1280del12

1 paper

NM_002581.5

p.N454N

c.1362C>T

1 paper

NM_002581.5

p.K418N

c.1254G>C

1 paper

NM_002581.5

p.K418N

c.1254G>T

1 paper

NM_002581.5

p.L411L

c.1233G>T