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.R476L

c.1427G>T

Surrounding Variants

2 papers

NM_174936.4

p.R476H

c.1427G>A

1 paper

NM_174936.4

p.R476S

c.1426C>A

1 paper

NM_174936.4

p.R476G

c.1426C>G

10 papers

NM_174936.4

p.R476C

c.1426C>T

3 papers

NM_174936.4

p.A475V

c.1424C>T

2 papers

NM_174936.4

p.A478T

c.1432G>A

53 papers

NM_174936.4

p.V474I

c.1420G>A

1 paper

NM_174936.4

p.V474delins

c.1420_1422delinsATT

1 paper

NM_174936.4

p.A473_V474insFs

c.1419_1420ins4

1 paper

NM_174936.4

p.A473insFs

c.1418_1419ins4

1 paper

NM_174936.4

p.P479L

c.1436C>T

5 papers

NM_174936.4

p.D480N

c.1438G>A