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.I677T

c.2030T>C

Surrounding Variants

1 paper

NM_174936.4

p.I677_S681delFs

c.2030_2042del13

1 paper

NM_174936.4

p.C678S

c.2032T>A

1 paper

NM_174936.4

p.C678Y

c.2033G>A

1 paper

NM_174936.4

p.C678S

c.2033G>C

1 paper

NM_174936.4

p.C678*

c.2034C>A

1 paper

NM_174936.4

p.A676T

c.2026G>A

1 paper

NM_174936.4

p.A676P

c.2026G>C

2 papers

NM_174936.4

p.C679S

c.2035T>A

2 papers

NM_174936.4

p.A676delFs

c.2026delG

2 papers

NM_174936.4

p.C679S

c.2036G>C

208 papers

NM_174936.4

p.C679*

c.2037C>A

1 paper

NM_174936.4

p.V675L

c.2023G>C