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.R412T

c.1235G>C

Surrounding Variants

1 paper

NM_174936.4

p.R412K

c.1235G>A

1 paper

NM_174936.4

p.L411L

c.1233G>A

1 paper

NM_174936.4

p.Q413L

c.1238A>T

1 paper

NM_174936.4

p.E410A

c.1229A>C

1 paper

NM_174936.4

p.E410K

c.1228G>A

1 paper

NM_174936.4

p.A409A

c.1227C>T

1 paper

NM_174936.4

p.A409V

c.1226C>T

1 paper

NM_174936.4

p.I416T

c.1247T>C

1 paper

NM_174936.4

p.L408L

c.1222C>T

1 paper

NM_174936.4

p.T407T

c.1221C>T

1 paper

NM_174936.4

p.H417Y

c.1249C>T

11 papers

NM_174936.4

p.H417Q

c.1251C>A