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.G1272D

c.3815G>A

Surrounding Variants

1 paper

NM_002581.5

p.H1290Y

c.3868C>T

1 paper

NM_002581.5

p.Q1292E

c.3874C>G

1 paper

NM_002581.5

p.C1314R

c.3940T>C

1 paper

NM_002581.5

p.L1320V

c.3958T>G

1 paper

NM_002581.5

p.D1254Y

c.3760G>T

1 paper

NM_002581.5

p.D1253E

c.3759T>A

1 paper

NM_002581.5

p.D1253E

c.3759T>G

1 paper

NM_002581.5

p.R1251Q

c.3752G>A

1 paper

NM_002581.5

p.R1251W

c.3751C>T

1 paper

NM_002581.5

p.C1238R

c.3712T>C

1 paper

NM_002581.5

p.A1236T

c.3706G>A

6 papers

NM_002581.5

p.S1224Y

c.3671C>A