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

36 papers

NM_174936.4

p.H553R

c.1658A>G

Surrounding Variants

1 paper

NM_174936.4

p.Q554K

c.1660C>A

30 papers

NM_174936.4

p.Q554E

c.1660C>G

1 paper

NM_174936.4

p.C552_V558del0

c.1655_1672del18

1 paper

NM_174936.4

p.Q555*

c.1663C>T

1 paper

NM_174936.4

p.Q555R

c.1664A>G

11 papers

NM_174936.4

p.R549H

c.1646G>A

1 paper

NM_174936.4

p.R549L

c.1646G>T

1 paper

NM_174936.4

p.R549C

c.1645C>T

1 paper

NM_174936.4

p.V558ins1

c.1672_1673insTCC

1 paper

NM_174936.4

p.V558F

c.1672G>T

1 paper

NM_174936.4

p.T560S

c.1678A>T

5 papers

NM_174936.4

p.T560R

c.1679C>G