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

6 papers

NM_174936.4

p.R251C

c.751C>T

Surrounding Variants

1 paper

NM_174936.4

p.R251insFs

c.752dupG

1 paper

NM_174936.4

p.R251H

c.752G>A

1 paper

NM_174936.4

p.R251R

c.753C>T

1 paper

NM_174936.4

p.V252M

c.754G>A

1 paper

NM_174936.4

p.V252fs

c.754_755fs

2 papers

NM_174936.4

p.V252delFs

c.755delT

1 paper

NM_174936.4

p.V252fs

c.754_755fs

3 papers

NM_174936.4

p.S249R

c.747C>A

2 papers

NM_174936.4

p.S249R

c.747C>G

1 paper

NM_174936.4

p.S249N

c.746G>A

1 paper

NM_174936.4

p.V252V

c.756G>T

2 papers

NM_174936.4

p.S249R

c.745A>C