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

55 papers

NM_174936.4

p.G670E

c.2009G>A

Surrounding Variants

1 paper

NM_174936.4

p.G670G

c.2010G>A

1 paper

NM_174936.4

p.G670_A671insG

c.2008_2012ins3

1 paper

NM_174936.4

p.A671_V672delFs

c.2013_2014delCG

3 papers

NM_174936.4

p.E669K

c.2005G>A

27 papers

NM_174936.4

p.S668R

c.2004C>A

26 papers

NM_174936.4

p.S668R

c.2004C>G

26 papers

NM_174936.4

p.S668R

c.2002A>C

3 papers

NM_174936.4

p.S668G

c.2002A>G

1 paper

NM_174936.4

p.V672V

c.2016G>A

1 paper

NM_174936.4

p.T667_S668delins

c.2001_2002delinsGT

1 paper

NM_174936.4

p.S666N

c.1997G>A

1 paper

NM_174936.4

p.S666I

c.1997G>T