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.R7insFs

c.20dupG

Surrounding Variants

1 paper

NM_174936.4

p.R7delFs

c.20_21delGG

3 papers

NM_174936.4

p.S6S

c.18C>A

1 paper

NM_174936.4

p.S6F

c.17C>T

1 paper

NM_174936.4

p.R7R

c.21G>A

1 paper

NM_174936.4

p.R8W

c.22C>T

1 paper

NM_174936.4

p.S6insFs

c.17dupC

1 paper

NM_174936.4

p.S5R

c.15C>A

1 paper

NM_174936.4

p.S5_S6delFs

c.15_16delCT

1 paper

NM_174936.4

p.S5insFs

c.14dupG

3 papers

NM_174936.4

p.S5G

c.13A>G

1 paper

NM_174936.4

p.S9delins

c.26delinsC

37 papers

NM_174936.4

p.V4I

c.10G>A