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.H464R

c.1391A>G

Surrounding Variants

18 papers

NM_174936.4

p.S465L

c.1394C>T

1 paper

NM_174936.4

p.G466E

c.1397G>A

26 papers

NM_174936.4

p.S462P

c.1384T>C

10 papers

NM_174936.4

p.P467A

c.1399C>G

10 papers

NM_174936.4

p.V460V

c.1380A>G

2 papers

NM_174936.4

p.V460fs

c.1378_1379fs

51 papers

NM_174936.4

p.R469W

c.1405C>T

2 papers

NM_174936.4

p.V460delFs

c.1378delG

1 paper

NM_174936.4

p.T459S

c.1376C>G

1 paper

NM_174936.4

p.T459A

c.1375A>G

1 paper

NM_174936.4

p.M470L

c.1408A>T

1 paper

NM_174936.4

p.R458fs

c.1372_1373fs