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.R180Q

c.539G>A

Surrounding Variants

1 paper

NM_002581.5

p.V182_G194del13

c.544_581del39

1 paper

NM_002581.5

p.S173P

c.517T>C

1 paper

NM_002581.5

p.R169C

c.505C>T

1 paper

NM_002581.5

p.N165K

c.495C>A

1 paper

NM_002581.5

p.N165K

c.495C>G

1 paper

NM_002581.5

p.V197insFs

c.591dupA

1 paper

NM_002581.5

p.V155M

c.463G>A

1 paper

NM_002581.5

p.R151Q

c.452G>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.I147F

c.439A>T

1 paper

NM_002581.5

p.D142_K143delFs

c.424_427del4