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

39 papers

NM_174936.4

p.V114A

c.341T>C

Surrounding Variants

1 paper

NM_174936.4

p.H113insFs

c.338_339insG

4 papers

NM_174936.4

p.F115F

c.345C>T

1 paper

NM_174936.4

p.H113Y

c.337C>T

2 papers

NM_174936.4

p.L112L

c.336G>A

1 paper

NM_174936.4

p.G117_V124insFs

c.350_372dup23

1 paper

NM_174936.4

p.L112P

c.335T>C

1 paper

NM_174936.4

p.L112R

c.335T>G

1 paper

NM_174936.4

p.G117D

c.350G>A

1 paper

NM_174936.4

p.G117G

c.351C>T

1 paper

NM_174936.4

p.L118F

c.352C>T

1 paper

NM_174936.4

p.L119delFs

c.357delT

1 paper

NM_174936.4

p.T109I

c.326C>T