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

10 papers

NM_020318.3

p.A1033V

c.3098C>T

Surrounding Variants

1 paper

NM_020318.3

p.A1034V

c.3101C>T

1 paper

NM_020318.3

p.F1025L

c.3075T>A

1 paper

NM_020318.3

p.F1025L

c.3075T>G

1 paper

NM_020318.3

p.F1025I

c.3073T>A

1 paper

NM_020318.3

p.F1025L

c.3073T>C

1 paper

NM_020318.3

p.T1024A

c.3070A>G

2 papers

NM_020318.3

p.S1046T

c.3136T>A

1 paper

NM_020318.3

p.V1013M

c.3037G>A

1 paper

NM_020318.3

p.D1058Y

c.3172G>T

1 paper

NM_020318.3

p.P1060R

c.3179C>G

1 paper

NM_020318.3

p.V1067M

c.3199G>A

1 paper

NM_020318.3

p.H1073Y

c.3217C>T