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.C255S

c.763T>A

Surrounding Variants

1 paper

NM_174936.4

p.C255R

c.763T>C

1 paper

NM_174936.4

p.C255Y

c.764G>A

1 paper

NM_174936.4

p.C255S

c.764G>C

3 papers

NM_174936.4

p.N254T

c.761A>C

1 paper

NM_174936.4

p.C255W

c.765C>G

63 papers

NM_174936.4

p.L253F

c.757C>T

1 paper

NM_174936.4

p.V252V

c.756G>T

3 papers

NM_174936.4

p.K258*

c.772A>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