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.S681T

c.2042G>C

Surrounding Variants

1 paper

NM_174936.4

p.S681_R682ins4

c.2041_2045ins12

7 papers

NM_174936.4

p.S681R

c.2043C>A

1 paper

NM_174936.4

p.R682_H683ins9

c.2044_2048ins27

2 papers

NM_174936.4

p.R682Q

c.2045G>A

1 paper

NM_174936.4

p.R680Q

c.2039G>A

3 papers

NM_174936.4

p.R680W

c.2038C>T

208 papers

NM_174936.4

p.C679*

c.2037C>A

1 paper

NM_174936.4

p.H683N

c.2047C>A

1 paper

NM_174936.4

p.H683insFs

c.2048dupA

3 papers

NM_174936.4

p.H683fs

c.2047_2048fs

2 papers

NM_174936.4

p.C679S

c.2036G>C

2 papers

NM_174936.4

p.C679S

c.2035T>A