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.K243R

c.728A>G

Surrounding Variants

1 paper

NM_174936.4

p.K243Q

c.727A>C

1 paper

NM_174936.4

p.K243K

c.729G>A

1 paper

NM_174936.4

p.G244S

c.730G>A

1 paper

NM_174936.4

p.A242V

c.725C>T

2 papers

NM_174936.4

p.G244D

c.731G>A

4 papers

NM_174936.4

p.A245T

c.733G>A

2 papers

NM_174936.4

p.V241M

c.721G>A

1 paper

NM_174936.4

p.G240D

c.719G>A

2 papers

NM_174936.4

p.G240S

c.718G>A

2 papers

NM_174936.4

p.M247L

c.739A>T

9 papers

NM_174936.4

p.A239D

c.716C>A

1 paper

NM_174936.4

p.M247T

c.740T>C