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

45 papers

NM_174936.4

p.D374H

c.1120G>C

Surrounding Variants

7 papers

NM_174936.4

p.D374N

c.1120G>A

1 paper

NM_174936.4

p.D374_C375ins4

c.1120_1124ins12

364 papers

NM_174936.4

p.D374Y

c.1120G>T

7 papers

NM_174936.4

p.D374A

c.1121A>C

1 paper

NM_174936.4

p.D374G

c.1121A>G

1 paper

NM_174936.4

p.D374V

c.1121A>T

3 papers

NM_174936.4

p.D374E

c.1122C>A

3 papers

NM_174936.4

p.D374E

c.1122C>G

1 paper

NM_174936.4

p.C375_S376delFs

c.1123_1126del4

3 papers

NM_174936.4

p.S373N

c.1118G>A

1 paper

NM_174936.4

p.C375G

c.1123T>G

1 paper

NM_174936.4

p.C375Y

c.1124G>A