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.V208M

c.622G>A

Surrounding Variants

2 papers

NM_174936.4

p.V208fs

c.622_623fs

1 paper

NM_174936.4

p.V208fs

c.622_623fs

1 paper

NM_174936.4

p.E210_R215insFs

c.628_643dup16

2 papers

NM_174936.4

p.P209L

c.626C>T

3 papers

NM_174936.4

p.E206K

c.616G>A

1 paper

NM_174936.4

p.E211K

c.631G>A

1 paper

NM_174936.4

p.D204A

c.611A>C

1 paper

NM_174936.4

p.E211D

c.633G>C

4 papers

NM_174936.4

p.D204N

c.610G>A

1 paper

NM_174936.4

p.T203T

c.609C>T

1 paper

NM_174936.4

p.T203P

c.607A>C

1 paper

NM_174936.4

p.T203delFs

c.609delC