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.R167Q

c.500G>A

Surrounding Variants

3 papers

NM_174936.4

p.R167W

c.499C>T

2 papers

NM_174936.4

p.Y166Y

c.498C>T

3 papers

NM_174936.4

p.A168T

c.502G>A

1 paper

NM_174936.4

p.A168P

c.502G>C

1 paper

NM_174936.4

p.Y166C

c.497A>G

8 papers

NM_174936.4

p.A168E

c.503C>A

3 papers

NM_174936.4

p.A168G

c.503C>G

2 papers

NM_174936.4

p.A168V

c.503C>T

1 paper

NM_174936.4

p.A168A

c.504G>A

1 paper

NM_174936.4

p.R165R

c.495G>C

1 paper

NM_174936.4

p.D169V

c.506A>T

3 papers

NM_174936.4

p.R165Q

c.494G>A