Varaico: Literature-Extracted Genetic Variants

PCSK9

1,547 papers

RefSeq Summary

This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branc...

Pfam Domains

Inhibitor_I9aa 118–193UCSCPeptidase inhibitor I9

Peptidase_S8aa 218–482UCSCSubtilase family

PCSK9_C1aa 490–572UCSCProprotein convertase subtilisin-like/kexin type 9 C-terminal domain

PCSK9_C2aa 576–641UCSCProprotein convertase subtilisin-like/kexin type 9 C-terminal domain

PCSK9_C3aa 643–723UCSCProprotein convertase subtilisin-like/kexin type 9 C-terminal domain

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 9

HGNC Previous Symbol

HCHOLA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_174936.4

p.H537delFs

c.1610delA

Surrounding Variants

1 paper

NM_174936.4

p.S535N

c.1604G>A

1 paper

NM_174936.4

p.A539P

c.1615G>C

1 paper

NM_174936.4

p.C534Y

c.1601G>A

1 paper

NM_174936.4

p.P540L

c.1619C>T

2 papers

NM_174936.4

p.P541S

c.1621C>T

1 paper

NM_174936.4

p.A542T

c.1624G>A

4 papers

NM_174936.4

p.Q531*

c.1591C>T

1 paper

NM_174936.4

p.E543_H551del0

c.1629_1652del24

1 paper

NM_174936.4

p.P530H

c.1589C>A

1 paper

NM_174936.4

p.P530L

c.1589C>T

1 paper

NM_174936.4

p.A544delFs

c.1632delC

1 paper

NM_174936.4

p.S545G

c.1633A>G