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.E1535A

c.4604A>C

Surrounding Variants

1 paper

NM_002581.5

p.P1531H

c.4592C>A

1 paper

NM_002581.5

p.R1523H

c.4568G>A

1 paper

NM_002581.5

p.E1535_R1536Splc

c.4605+80T>C

1 paper

NM_002581.5

p.C1492F

c.4475G>T

2 papers

NM_002581.5

p.E1483K

c.4447G>A

1 paper

NM_002581.5

p.C1458C

c.4374C>T

2 papers

NM_002581.5

p.L1451P

c.4352T>C