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.L13V

c.37C>G

Surrounding Variants

1 paper

NM_174936.4

p.L13_L15delFs

c.38_44del7

1 paper

NM_174936.4

p.P12P

c.36G>A

1 paper

NM_174936.4

p.P12_L13insFs

c.36_37insC

1 paper

NM_174936.4

p.P12R

c.35C>G

3 papers

NM_174936.4

p.P12A

c.34C>G

1 paper

NM_174936.4

p.P14insFs

c.41_42insT

1 paper

NM_174936.4

p.W11*

c.33G>A

25 papers

NM_174936.4

p.L21_L22ins1

c.63_64insCTG

14 papers

NM_174936.4

p.L22ins2

c.65_66ins6

1 paper

NM_174936.4

p.P14_L15ins3

c.42_43ins9

1 paper

NM_174936.4

p.P14_L15insFs

c.42_43insTG

5 papers

NM_174936.4

p.L21del1

c.61_63delCTG