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.R271Q

c.812G>A

Surrounding Variants

1 paper

NM_020318.3

p.L273M

c.817C>A

4 papers

NM_020318.3

p.R269Q

c.806G>A

2 papers

NM_020318.3

p.R275H

c.824G>A

1 paper

NM_020318.3

p.R275P

c.824G>C

1 paper

NM_020318.3

p.P276S

c.826C>T

1 paper

NM_020318.3

p.Y264H

c.790T>C

1 paper

NM_020318.3

p.P261S

c.781C>T

1 paper

NM_020318.3

p.R284W

c.850C>T

1 paper

NM_020318.3

p.A251T

c.751G>A

1 paper

NM_020318.3

p.P295T

c.883C>A

1 paper

NM_020318.3

p.E296K

c.886G>A

1 paper

NM_020318.3

p.G298E

c.893G>A