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.A100T

c.298G>A

Surrounding Variants

1 paper

NM_174936.4

p.Q99L

c.296A>T

1 paper

NM_174936.4

p.A100A

c.300C>T

2 papers

NM_174936.4

p.Q101K

c.301C>A

2 papers

NM_174936.4

p.Q101L

c.302A>T

1 paper

NM_174936.4

p.L98M

c.292C>A

1 paper

NM_174936.4

p.R97R

c.291C>G

1 paper

NM_174936.4

p.R97R

c.291C>T

2 papers

NM_174936.4

p.R97H

c.290G>A

1 paper

NM_174936.4

p.R97C

c.289C>T

1 paper

NM_174936.4

p.A103S

c.307G>T

1 paper

NM_174936.4

p.A103D

c.308C>A

1 paper

NM_174936.4

p.R96H

c.287G>A