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

119 papers

NM_174936.4

p.F216L

c.646T>C

Surrounding Variants

1 paper

NM_174936.4

p.F216I

c.646T>A

1 paper

NM_174936.4

p.F216_Q219del0

c.648_656del9

119 papers

NM_174936.4

p.F216L

c.648C>A

119 papers

NM_174936.4

p.F216L

c.648C>G

53 papers

NM_174936.4

p.R215H

c.644G>A

1 paper

NM_174936.4

p.R215L

c.644G>T

9 papers

NM_174936.4

p.R215C

c.643C>T

1 paper

NM_174936.4

p.H217R

c.650A>G

1 paper

NM_174936.4

p.R218G

c.652A>G

2 papers

NM_174936.4

p.R218K

c.653G>A

1 paper

NM_174936.4

p.R218_Q219del1

c.654_656delACA

81 papers

NM_174936.4

p.R218S

c.654A>C