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.S147C

c.440C>G

Surrounding Variants

1 paper

NM_174936.4

p.S148_V149insFs

c.444_445insCT

1 paper

NM_174936.4

p.S147F

c.440C>T

1 paper

NM_174936.4

p.S147A

c.439T>G

1 paper

NM_174936.4

p.D146E

c.438C>A

1 paper

NM_174936.4

p.D146E

c.438C>G

1 paper

NM_174936.4

p.S148P

c.442T>C

1 paper

NM_174936.4

p.S148A

c.442T>G

1 paper

NM_174936.4

p.D146A

c.437A>C

1 paper

NM_174936.4

p.S148F

c.443C>T

1 paper

NM_174936.4

p.D146H

c.436G>C

1 paper

NM_174936.4

p.V149I

c.445G>A

2 papers

NM_174936.4

p.V149L

c.445G>C