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.R107H

c.320G>A

Surrounding Variants

1 paper

NM_002581.5

p.G103D

c.308G>A

1 paper

NM_002581.5

p.L112P

c.335T>C

1 paper

NM_002581.5

p.P115R

c.344C>G

1 paper

NM_002581.5

p.P92S

c.274C>T

1 paper

NM_002581.5

p.P90Q

c.269C>A

2 papers

NM_002581.5

p.E82*

c.244G>T

1 paper

NM_002581.5

p.G139R

c.415G>A

1 paper

NM_002581.5

p.G139R

c.415G>C

1 paper

NM_002581.5

p.P64L

c.191C>T

1 paper

NM_002581.5

p.P61_P65delFs

c.182_194del13

1 paper

NM_002581.5

p.P60_P61insAGC

c.178_182ins9

1 paper

NM_002581.5

p.P60S

c.178C>T