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.Q433P

c.1298A>C

Surrounding Variants

28 papers

NM_174936.4

p.R434W

c.1300C>T

2 papers

NM_174936.4

p.R434delFs

c.1302delG

1 paper

NM_174936.4

p.D432N

c.1294G>A

1 paper

NM_174936.4

p.V435L

c.1303G>C

1 paper

NM_174936.4

p.V435L

c.1303G>T

1 paper

NM_174936.4

p.E431K

c.1291G>A

1 paper

NM_174936.4

p.L436P

c.1307T>C

1 paper

NM_174936.4

p.T437N

c.1310C>A

1 paper

NM_174936.4

p.T437I

c.1310C>T

1 paper

NM_174936.4

p.E431_L444delFs

c.1291_1331del41

1 paper

NM_174936.4

p.N439_A442del4

c.1315_1325del12

20 papers

NM_174936.4

p.W428*

c.1284G>A