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

2 papers

NM_174936.4

p.A44P

c.130G>C

Surrounding Variants

1 paper

NM_174936.4

p.L43P

c.128T>C

16 papers

NM_174936.4

p.L43_A44insCTG

c.127_131ins9

1 paper

NM_174936.4

p.L43_E48del6

c.127_143del18

1 paper

NM_174936.4

p.R46_E48del0

c.137_142del6

1 paper

NM_174936.4

p.V42_L43insTG

c.124_128ins6

8 papers

NM_174936.4

p.V42_L43insCTG

c.124_128ins9

1 paper

NM_174936.4

p.V42_L43ins6

c.124_128ins18

1 paper

NM_174936.4

p.V42_L43ins9

c.124_128ins27

2 papers

NM_174936.4

p.R46H

c.137G>A

1 paper

NM_174936.4

p.R46P

c.137G>C

407 papers

NM_174936.4

p.R46L

c.137G>T

1 paper

NM_174936.4

p.L41Q

c.122T>A