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.Q546H

c.1638G>T

Surrounding Variants

1 paper

NM_020318.3

p.Q546H

c.1638G>C

1 paper

NM_020318.3

p.I547L

c.1639A>C

1 paper

NM_020318.3

p.N539I

c.1616A>T

1 paper

NM_020318.3

p.G537V

c.1610G>T

1 paper

NM_020318.3

p.E536D

c.1608G>C

1 paper

NM_020318.3

p.E536D

c.1608G>T

1 paper

NM_020318.3

p.S559N

c.1676G>A

1 paper

NM_020318.3

p.D534Y

c.1600G>T

1 paper

NM_020318.3

p.R560H

c.1679G>A

2 papers

NM_020318.3

p.V569I

c.1705G>A

1 paper

NM_020318.3

p.Q571*

c.1711C>T

1 paper

NM_020318.3

p.R520W

c.1558C>T