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.G629_W630delFs

c.1887_1888delCT

Surrounding Variants

3 papers

NM_174936.4

p.G629D

c.1886G>A

1 paper

NM_174936.4

p.G629delFs

c.1886delG

1 paper

NM_174936.4

p.W630L

c.1889G>T

3 papers

NM_174936.4

p.E627K

c.1879G>A

1 paper

NM_174936.4

p.C626C

c.1878C>T

1 paper

NM_174936.4

p.C626Y

c.1877G>A

1 paper

NM_174936.4

p.A625A

c.1875C>G

12 papers

NM_174936.4

p.V624M

c.1870G>A

1 paper

NM_174936.4

p.V624L

c.1870G>C

1 paper

NM_174936.4

p.V624L

c.1870G>T

2 papers

NM_174936.4

p.C635R

c.1903T>C

8 papers

NM_174936.4

p.S636R

c.1906A>C