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.D238E

c.714T>A

Surrounding Variants

1 paper

NM_174936.4

p.D238E

c.714T>G

4 papers

NM_174936.4

p.D238A

c.713A>C

1 paper

NM_174936.4

p.D238V

c.713A>T

9 papers

NM_174936.4

p.A239D

c.716C>A

1 paper

NM_174936.4

p.D238insFs

c.713dupA

2 papers

NM_174936.4

p.D238fs

c.712_713fs

1 paper

NM_174936.4

p.D238fs

c.712_713fs

2 papers

NM_174936.4

p.G240S

c.718G>A

1 paper

NM_174936.4

p.R237P

c.710G>C

53 papers

NM_174936.4

p.R237W

c.709C>T

1 paper

NM_174936.4

p.G240D

c.719G>A

2 papers

NM_174936.4

p.V241M

c.721G>A