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.A28S

c.82G>T

Surrounding Variants

1 paper

NM_174936.4

p.A28fs

c.82_83fs

1 paper

NM_174936.4

p.A28delFs

c.83delC

2 papers

NM_174936.4

p.G27G

c.81C>G

3 papers

NM_174936.4

p.G27G

c.81C>T

1 paper

NM_174936.4

p.G27A

c.80G>C

1 paper

NM_174936.4

p.R29S

c.85C>A

1 paper

NM_174936.4

p.G27fs

c.79_80fs

1 paper

NM_174936.4

p.A26V

c.77C>T

1 paper

NM_174936.4

p.A26T

c.76G>A

1 paper

NM_174936.4

p.A26P

c.76G>C

4 papers

NM_174936.4

p.A30_Q31insFs

c.89_92dup4

5 papers

NM_174936.4

p.P25P

c.75C>T