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.S927R

c.2779A>C

Surrounding Variants

1 paper

NM_020318.3

p.S927R

c.2781C>A

1 paper

NM_020318.3

p.S927R

c.2781C>G

1 paper

NM_020318.3

p.E925K

c.2773G>A

1 paper

NM_020318.3

p.H939Y

c.2815C>T

1 paper

NM_020318.3

p.T943R

c.2828C>G

1 paper

NM_020318.3

p.T943M

c.2828C>T

1 paper

NM_020318.3

p.V944F

c.2830G>T

1 paper

NM_020318.3

p.L955P

c.2864T>C

1 paper

NM_020318.3

p.P960T

c.2878C>A

1 paper

NM_020318.3

p.D964N

c.2890G>A

1 paper

NM_020318.3

p.S978L

c.2933C>T

1 paper

NM_020318.3

p.K991*

c.2971A>T