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

1–12 of 329 variants

14 papers

NM_020318.3

p.D643fs

c.1927_1928fs

10 papers

NM_020318.3

p.A1033V

c.3098C>T

4 papers

NM_020318.3

p.R269Q

c.806G>A

4 papers

NM_020318.3

p.D643insFs

c.1927_1928insAT

3 papers

NM_020318.3

p.R374W

c.1120C>T

3 papers

NM_020318.3

p.T792I

c.2375C>T

3 papers

NM_020318.3

p.E886*

c.2656G>T

3 papers

NM_020318.3

p.R901L

c.2702G>T

2 papers

NM_020318.3

p.R49C

c.145C>T

2 papers

NM_020318.3

p.P223S

c.667C>T

2 papers

NM_020318.3

p.R275H

c.824G>A

2 papers

NM_020318.3

p.R337H

c.1010G>A