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

2 papers

NM_174936.4

p.A68fs

c.202_203fs

Surrounding Variants

2 papers

NM_174936.4

p.A68T

c.202G>A

1 paper

NM_174936.4

p.A68P

c.202G>C

1 paper

NM_174936.4

p.A68D

c.203C>A

1 paper

NM_174936.4

p.A68G

c.203C>G

9 papers

NM_174936.4

p.A68delFs

c.202delG

1 paper

NM_174936.4

p.C67F

c.200G>T

1 paper

NM_174936.4

p.K69M

c.206A>T

3 papers

NM_174936.4

p.K69_D70Splc

c.207+1G>A

1 paper

NM_174936.4

p.K69_D70Splc

c.207+2T>C

1 paper

NM_174936.4

p.H65_R66insG

c.193_197ins3

1 paper

NM_174936.4

p.H65_R66ins6

c.193_197ins18

1 paper

NM_174936.4

p.K69_D70Splc

c.207+5G>A