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.Q443*

c.1327C>T

Surrounding Variants

1 paper

NM_020318.3

p.S446N

c.1337G>A

1 paper

NM_020318.3

p.Q439K

c.1315C>A

1 paper

NM_020318.3

p.A451V

c.1352C>T

1 paper

NM_020318.3

p.S430L

c.1289C>T

1 paper

NM_020318.3

p.E461K

c.1381G>A

1 paper

NM_020318.3

p.G424_V427del4

c.1270_1280del12

1 paper

NM_020318.3

p.R420C

c.1258C>T

1 paper

NM_020318.3

p.F470fs

c.1408_1409fs

1 paper

NM_020318.3

p.D415V

c.1244A>T

1 paper

NM_020318.3

p.E414Q

c.1240G>C

1 paper

NM_020318.3

p.S412R

c.1236C>A

1 paper

NM_020318.3

p.D411H

c.1231G>C