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

407 papers

NM_174936.4

p.R46L

c.137G>T

Surrounding Variants

2 papers

NM_174936.4

p.R46H

c.137G>A

1 paper

NM_174936.4

p.R46P

c.137G>C

1 paper

NM_174936.4

p.R46_E48del0

c.137_142del6

1 paper

NM_174936.4

p.R46R

c.138T>C

2 papers

NM_174936.4

p.S47A

c.139T>G

1 paper

NM_174936.4

p.S47Y

c.140C>A

2 papers

NM_174936.4

p.S47C

c.140C>G

2 papers

NM_174936.4

p.S47S

c.141C>T

5 papers

NM_174936.4

p.E48K

c.142G>A

1 paper

NM_174936.4

p.E48A

c.143A>C

1 paper

NM_174936.4

p.E48G

c.143A>G

1 paper

NM_174936.4

p.E48V

c.143A>T