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

81 papers

NM_174936.4

p.R218S

c.654A>C

Surrounding Variants

81 papers

NM_174936.4

p.R218S

c.654A>T

13 papers

NM_174936.4

p.Q219E

c.655C>G

2 papers

NM_174936.4

p.R218K

c.653G>A

1 paper

NM_174936.4

p.R218_Q219del1

c.654_656delACA

1 paper

NM_174936.4

p.R218G

c.652A>G

1 paper

NM_174936.4

p.Q219Q

c.657G>A

1 paper

NM_174936.4

p.H217R

c.650A>G

2 papers

NM_174936.4

p.Q219_A220Splc

c.657+1G>A

7 papers

NM_174936.4

p.Q219_A220Splc

c.657+1G>T

1 paper

NM_174936.4

p.Q219_A220Splc

c.657+2T>C

119 papers

NM_174936.4

p.F216L

c.648C>A

119 papers

NM_174936.4

p.F216L

c.648C>G