Varaico: Literature-Extracted Genetic Variants

PAPPA2

213 papers

RefSeq Summary

This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of ...

Pfam Domains

Laminin_G_3aa 273–438UCSCConcanavalin A-like lectin/glucanases superfamily

Notchaa 584–613UCSCLNR domain

Peptidase_M43aa 669–831UCSCPregnancy-associated plasma protein-A

PAPPAaa 882–1047UCSCPappalysin-1, SD scarf domain, C-terminal

Sushiaa 1464–1521UCSCSushi repeat (SCR repeat)

Sushiaa 1525–1590UCSCSushi repeat (SCR repeat)

Gene Aliases

HGNC Name

pappalysin 2

HGNC Previous Symbol

PLAC3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020318.3

p.D597E

c.1791C>A

Surrounding Variants

1 paper

NM_020318.3

p.D597E

c.1791C>G

1 paper

NM_020318.3

p.D597N

c.1789G>A

1 paper

NM_020318.3

p.D594N

c.1780G>A

1 paper

NM_020318.3

p.G592S

c.1774G>A

1 paper

NM_020318.3

p.R613S

c.1837C>A

1 paper

NM_020318.3

p.Q571*

c.1711C>T

2 papers

NM_020318.3

p.V569I

c.1705G>A

1 paper

NM_020318.3

p.H629Q

c.1887C>A

1 paper

NM_020318.3

p.H629Q

c.1887C>G

1 paper

NM_020318.3

p.H629H

c.1887C>T

2 papers

NM_020318.3

p.E631K

c.1891G>A

1 paper

NM_020318.3

p.R560H

c.1679G>A