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.T172N

c.515C>A

Surrounding Variants

1 paper

NM_020318.3

p.N181N

c.543C>T

1 paper

NM_020318.3

p.G161W

c.481G>T

1 paper

NM_020318.3

p.R189fs

c.565_566fs

1 paper

NM_020318.3

p.R189delFs

c.566delG

1 paper

NM_020318.3

p.E155E

c.465G>A

1 paper

NM_020318.3

p.E155K

c.463G>A

1 paper

NM_020318.3

p.R152*

c.454A>T

1 paper

NM_020318.3

p.K194R

c.581A>G

1 paper

NM_020318.3

p.R198G

c.592C>G

1 paper

NM_020318.3

p.A146D

c.437C>A

1 paper

NM_020318.3

p.R198H

c.593G>A

1 paper

NM_020318.3

p.A146S

c.436G>T