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

4 papers

NM_174936.4

p.L19_L20del0

c.55_60del6

Surrounding Variants

25 papers

NM_174936.4

p.L21_L22ins1

c.63_64insCTG

14 papers

NM_174936.4

p.L22ins2

c.65_66ins6

1 paper

NM_174936.4

p.P14_L15ins3

c.42_43ins9

1 paper

NM_174936.4

p.P14_L15insFs

c.42_43insTG

5 papers

NM_174936.4

p.L21del1

c.61_63delCTG

1 paper

NM_174936.4

p.L18_L20del0

c.52_60del9

16 papers

NM_174936.4

p.L15ins1

c.43_44insCTG

1 paper

NM_174936.4

p.L15fs

c.43_44fs

3 papers

NM_174936.4

p.L15_L16insL

c.43_47ins3

1 paper

NM_174936.4

p.P14insFs

c.41_42insT

5 papers

NM_174936.4

p.L15ins1

c.44_45insCTG

1 paper

NM_174936.4

p.L13V

c.37C>G