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

5 papers

NM_174936.4

p.Y38F

c.113A>T

Surrounding Variants

1 paper

NM_174936.4

p.Y38delFs

c.114delC

3 papers

NM_174936.4

p.Y38*

c.114C>A

3 papers

NM_174936.4

p.Y38*

c.114C>G

1 paper

NM_174936.4

p.Y38H

c.112T>C

1 paper

NM_174936.4

p.D37_Y38insFs

c.111_112insA

1 paper

NM_174936.4

p.D37V

c.110A>T

1 paper

NM_174936.4

p.E39V

c.116A>T

1 paper

NM_174936.4

p.Y38_A44del7

c.112_131del21

1 paper

NM_174936.4

p.D37N

c.109G>A

1 paper

NM_174936.4

p.D37Y

c.109G>T

2 papers

NM_174936.4

p.E40K

c.118G>A

1 paper

NM_174936.4

p.E40A

c.119A>C