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.T61delFs

c.183delA

Surrounding Variants

1 paper

NM_174936.4

p.T60T

c.180C>T

1 paper

NM_174936.4

p.A62fs

c.184_185fs

4 papers

NM_174936.4

p.A62D

c.185C>A

1 paper

NM_174936.4

p.A62G

c.185C>G

6 papers

NM_174936.4

p.A62V

c.185C>T

1 paper

NM_174936.4

p.T60I

c.179C>T

3 papers

NM_174936.4

p.T63_F64insCTG

c.187_191ins9

1 paper

NM_174936.4

p.T63S

c.187A>T

1 paper

NM_174936.4

p.T63delFs

c.189delC

1 paper

NM_174936.4

p.T63I

c.188C>T

1 paper

NM_174936.4

p.G59E

c.176G>A

3 papers

NM_174936.4

p.G59R

c.175G>A