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.K222_G227ins2

c.664_681dup18

Surrounding Variants

1 paper

NM_174936.4

p.K222_G227Fs

c.664_681delinsCCGACTGFs

12 papers

NM_174936.4

p.A220T

c.658G>A

1 paper

NM_174936.4

p.A220delFs

c.660delC

1 paper

NM_174936.4

p.C223_G227insFs

c.667_680dup14

1 paper

NM_174936.4

p.K222_H229delFs

c.666_687del22

4 papers

NM_174936.4

p.Q219_A220Splc

c.658-2A>C

1 paper

NM_174936.4

p.Q219_A220Splc

c.658-2A>G

1 paper

NM_174936.4

p.K222N

c.666G>C

1 paper

NM_174936.4

p.K222N

c.666G>T

2 papers

NM_174936.4

p.C223_A231del0

c.667_693del27

1 paper

NM_174936.4

p.D224_H226ins1

c.670_678dup9

3 papers

NM_174936.4

p.C223*

c.669T>A