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.S387R

c.1161C>A

Surrounding Variants

1 paper

NM_020318.3

p.S387R

c.1161C>G

1 paper

NM_020318.3

p.S387R

c.1159A>C

1 paper

NM_020318.3

p.S388N

c.1163G>A

1 paper

NM_020318.3

p.S397_P398insFs

c.1191_1192insG

1 paper

NM_020318.3

p.F399S

c.1196T>C

3 papers

NM_020318.3

p.R374W

c.1120C>T

1 paper

NM_020318.3

p.R404C

c.1210C>T

1 paper

NM_020318.3

p.A368insFs

c.1102_1103insC

1 paper

NM_020318.3

p.W364*

c.1092G>A

1 paper

NM_020318.3

p.W364*

c.1091G>A

1 paper

NM_020318.3

p.D411H

c.1231G>C

1 paper

NM_020318.3

p.S412R

c.1236C>A