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.E49A

c.146A>C

Surrounding Variants

1 paper

NM_174936.4

p.E49V

c.146A>T

1 paper

NM_174936.4

p.E49D

c.147G>C

1 paper

NM_174936.4

p.E49_D50insTGA

c.145_149ins9

1 paper

NM_174936.4

p.E49D

c.147G>T

1 paper

NM_174936.4

p.E48D

c.144G>C

1 paper

NM_174936.4

p.E48D

c.144G>T

1 paper

NM_174936.4

p.E48A

c.143A>C

1 paper

NM_174936.4

p.D50A

c.149A>C

1 paper

NM_174936.4

p.E48G

c.143A>G

1 paper

NM_174936.4

p.E48V

c.143A>T

1 paper

NM_174936.4

p.D50V

c.149A>T

1 paper

NM_174936.4

p.D50delFs

c.150delC