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

2 papers

NM_174936.4

p.Q31fs

c.91_92fs

Surrounding Variants

1 paper

NM_174936.4

p.Q31*

c.91C>T

1 paper

NM_174936.4

p.Q31fs

c.91_92fs

1 paper

NM_174936.4

p.E32_D37del0

c.94_111del18

114 papers

NM_174936.4

p.E32K

c.94G>A

4 papers

NM_174936.4

p.A30_Q31insFs

c.89_92dup4

1 paper

NM_174936.4

p.R29S

c.85C>A

2 papers

NM_174936.4

p.D33N

c.97G>A

1 paper

NM_174936.4

p.D33insFs

c.98_99insG

1 paper

NM_174936.4

p.D33E

c.99C>A

2 papers

NM_174936.4

p.D33E

c.99C>G

3 papers

NM_174936.4

p.E34K

c.100G>A

1 paper

NM_174936.4

p.A28fs

c.82_83fs