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.G47R

c.139G>A

Surrounding Variants

1 paper

NM_020318.3

p.G47R

c.139G>C

2 papers

NM_020318.3

p.R49C

c.145C>T

1 paper

NM_020318.3

p.C50Y

c.149G>A

1 paper

NM_020318.3

p.R57*

c.169C>T

1 paper

NM_020318.3

p.R57Q

c.170G>A

1 paper

NM_020318.3

p.R57L

c.170G>T

1 paper

NM_020318.3

p.A61G

c.182C>G

1 paper

NM_020318.3

p.W28*

c.84G>A

1 paper

NM_020318.3

p.W28*

c.83G>A

1 paper

NM_020318.3

p.V70D

c.209T>A

1 paper

NM_020318.3

p.S73C

c.217A>T

1 paper

NM_020318.3

p.A75T

c.223G>A