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.P25_G27del0

c.73_81del9

Surrounding Variants

1 paper

NM_174936.4

p.G24_P25insFs

c.72_73insG

1 paper

NM_174936.4

p.G24D

c.71G>A

5 papers

NM_174936.4

p.P25P

c.75C>T

1 paper

NM_174936.4

p.A26T

c.76G>A

1 paper

NM_174936.4

p.A26P

c.76G>C

2 papers

NM_174936.4

p.L23M

c.67C>A

2 papers

NM_174936.4

p.L23fs

c.67_68fs

2 papers

NM_174936.4

p.L23_G24insL

c.67_71ins3

1 paper

NM_174936.4

p.A26V

c.77C>T

1 paper

NM_174936.4

p.L22_L23insFs

c.66_67insGG

2 papers

NM_174936.4

p.L23del1

c.67_68delCTG

1 paper

NM_174936.4

p.G27fs

c.79_80fs