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.G198R

c.592G>C

Surrounding Variants

2 papers

NM_174936.4

p.G198S

c.592G>A

2 papers

NM_174936.4

p.G198D

c.593G>A

2 papers

NM_174936.4

p.E197K

c.589G>A

1 paper

NM_174936.4

p.R199_V200insFs

c.597_598ins4

1 paper

NM_174936.4

p.V200I

c.598G>A

1 paper

NM_174936.4

p.E195D

c.585A>T

3 papers

NM_174936.4

p.V200A

c.599T>C

1 paper

NM_174936.4

p.V200insFs

c.599_600insC

1 paper

NM_174936.4

p.M201T

c.602T>C

2 papers

NM_174936.4

p.R194Q

c.581G>A

1 paper

NM_174936.4

p.R194P

c.581G>C

1 paper

NM_174936.4

p.V202F

c.604G>T