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

1–12 of 1207 variants

407 papers

NM_174936.4

p.R46L

c.137G>T

364 papers

NM_174936.4

p.D374Y

c.1120G>T

208 papers

NM_174936.4

p.C679*

c.2037C>A

202 papers

NM_174936.4

p.S127R

c.379A>C

201 papers

NM_174936.4

p.S127R

c.381T>A

201 papers

NM_174936.4

p.S127R

c.381T>G

178 papers

NM_174936.4

p.Y142*

c.426C>G

177 papers

NM_174936.4

p.Y142*

c.426C>A

119 papers

NM_174936.4

p.F216L

c.646T>C

119 papers

NM_174936.4

p.F216L

c.648C>A

119 papers

NM_174936.4

p.F216L

c.648C>G

114 papers

NM_174936.4

p.E32K

c.94G>A