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

2 papers

NM_174936.4

p.E40K

c.118G>A

Surrounding Variants

1 paper

NM_174936.4

p.E40A

c.119A>C

1 paper

NM_174936.4

p.E40V

c.119A>T

1 paper

NM_174936.4

p.E39V

c.116A>T

1 paper

NM_174936.4

p.E40D

c.120G>C

1 paper

NM_174936.4

p.L41_V42insT

c.121_125ins3

1 paper

NM_174936.4

p.L41V

c.121C>G

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.L41Q

c.122T>A

1 paper

NM_174936.4

p.L41P

c.122T>C

5 papers

NM_174936.4

p.Y38F

c.113A>T

1 paper

NM_174936.4

p.Y38delFs

c.114delC