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

201 papers

NM_174936.4

p.S127R

c.381T>A

Surrounding Variants

201 papers

NM_174936.4

p.S127R

c.381T>G

4 papers

NM_174936.4

p.G128S

c.382G>A

1 paper

NM_174936.4

p.S127T

c.380G>C

1 paper

NM_174936.4

p.G128fs

c.382_383fs

202 papers

NM_174936.4

p.S127R

c.379A>C

1 paper

NM_174936.4

p.S127C

c.379A>T

1 paper

NM_174936.4

p.G128V

c.383G>T

1 paper

NM_174936.4

p.M126I

c.378G>A

1 paper

NM_174936.4

p.M126I

c.378G>C

1 paper

NM_174936.4

p.M126I

c.378G>T

28 papers

NM_174936.4

p.D129N

c.385G>A

2 papers

NM_174936.4

p.M126K

c.377T>A