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

7 papers

NM_174936.4

p.N652D

c.1954A>G

Surrounding Variants

1 paper

NM_174936.4

p.N652delFs

c.1954_1955delAA

1 paper

NM_174936.4

p.D651A

c.1952A>C

1 paper

NM_174936.4

p.D651N

c.1951G>A

1 paper

NM_174936.4

p.D651H

c.1951G>C

2 papers

NM_174936.4

p.D651Y

c.1951G>T

1 paper

NM_174936.4

p.C654_V656del3

c.1960_1967del9

1 paper

NM_174936.4

p.C654S

c.1960T>A

1 paper

NM_174936.4

p.C654_V655insFs

c.1961_1965dup5

1 paper

NM_174936.4

p.V650_D651insFs

c.1948_1952dup5

1 paper

NM_174936.4

p.A649A

c.1947C>T

1 paper

NM_174936.4

p.A649T

c.1945G>A

1 paper

NM_174936.4

p.V655I

c.1963G>A