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.V80A

c.239T>C

Surrounding Variants

2 papers

NM_174936.4

p.V80M

c.238G>A

2 papers

NM_174936.4

p.V80L

c.238G>C

1 paper

NM_174936.4

p.V80L

c.238G>T

1 paper

NM_174936.4

p.V80fs

c.238_239fs

1 paper

NM_174936.4

p.V79V

c.237G>A

1 paper

NM_174936.4

p.V81M

c.241G>A

1 paper

NM_174936.4

p.V81delFs

c.242delT

3 papers

NM_174936.4

p.V79A

c.236T>C

2 papers

NM_174936.4

p.V81A

c.242T>C

2 papers

NM_174936.4

p.V79M

c.235G>A

1 paper

NM_174936.4

p.L82delFs

c.244delC

1 paper

NM_174936.4

p.L82V

c.244C>G