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.I143I

c.429C>A

Surrounding Variants

3 papers

NM_174936.4

p.E144K

c.430G>A

1 paper

NM_174936.4

p.E144A

c.431A>C

177 papers

NM_174936.4

p.Y142*

c.426C>A

178 papers

NM_174936.4

p.Y142*

c.426C>G

1 paper

NM_174936.4

p.Y142Y

c.426C>T

1 paper

NM_174936.4

p.E144D

c.432G>C

1 paper

NM_174936.4

p.E144_E145insFs

c.432_433insA

1 paper

NM_174936.4

p.E144D

c.432G>T

1 paper

NM_174936.4

p.Y142C

c.425A>G

1 paper

NM_174936.4

p.E145K

c.433G>A

1 paper

NM_174936.4

p.E145A

c.434A>C

1 paper

NM_174936.4

p.Y142H

c.424T>C