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.P223S

c.667C>T

Surrounding Variants

1 paper

NM_020318.3

p.P223H

c.668C>A

1 paper

NM_020318.3

p.K224N

c.672G>C

1 paper

NM_020318.3

p.K224N

c.672G>T

1 paper

NM_020318.3

p.P221S

c.661C>T

1 paper

NM_020318.3

p.H218N

c.652C>A

1 paper

NM_020318.3

p.G214A

c.641G>C

1 paper

NM_020318.3

p.G214C

c.640G>T

1 paper

NM_020318.3

p.P235T

c.703C>A

1 paper

NM_020318.3

p.G211R

c.631G>A

1 paper

NM_020318.3

p.G211R

c.631G>C

1 paper

NM_020318.3

p.R205W

c.613C>T

1 paper

NM_020318.3

p.G243D

c.728G>A