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

1 paper

NM_174936.4

p.A389A

c.1167T>C

Surrounding Variants

1 paper

NM_174936.4

p.A389V

c.1166C>T

18 papers

NM_174936.4

p.H391N

c.1171C>A

1 paper

NM_174936.4

p.A388T

c.1162G>A

1 paper

NM_174936.4

p.H391Q

c.1173C>A

1 paper

NM_174936.4

p.H391Q

c.1173C>G

1 paper

NM_174936.4

p.A388delFs

c.1162delG

1 paper

NM_174936.4

p.Q387*

c.1159C>T

1 paper

NM_174936.4

p.S386*

c.1157C>A

1 paper

NM_174936.4

p.S386*

c.1157C>G

43 papers

NM_174936.4

p.S386A

c.1156T>G

5 papers

NM_174936.4

p.G394S

c.1180G>A

2 papers

NM_174936.4

p.G394Splc

c.1180+1G>T