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

2 papers

NM_020318.3

p.R337H

c.1010G>A

Surrounding Variants

1 paper

NM_020318.3

p.S341F

c.1022C>T

1 paper

NM_020318.3

p.C343F

c.1028G>T

1 paper

NM_020318.3

p.D345N

c.1033G>A

1 paper

NM_020318.3

p.R346S

c.1036C>A

1 paper

NM_020318.3

p.G328V

c.983G>T

1 paper

NM_020318.3

p.V347M

c.1039G>A

1 paper

NM_020318.3

p.S317N

c.950G>A

1 paper

NM_020318.3

p.W364*

c.1091G>A

1 paper

NM_020318.3

p.W364*

c.1092G>A

1 paper

NM_020318.3

p.A368insFs

c.1102_1103insC

3 papers

NM_020318.3

p.R374W

c.1120C>T

1 paper

NM_020318.3

p.S387R

c.1159A>C