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.S419A

c.1255T>G

Surrounding Variants

1 paper

NM_174936.4

p.A420delFs

c.1260delC

11 papers

NM_174936.4

p.H417Q

c.1251C>A

11 papers

NM_174936.4

p.H417Q

c.1251C>G

1 paper

NM_174936.4

p.K421Q

c.1261A>C

1 paper

NM_174936.4

p.K421E

c.1261A>G

1 paper

NM_174936.4

p.H417Y

c.1249C>T

1 paper

NM_174936.4

p.K421R

c.1262A>G

1 paper

NM_174936.4

p.I416T

c.1247T>C

1 paper

NM_174936.4

p.D422fs

c.1264_1265fs

2 papers

NM_174936.4

p.D422fs

c.1264_1265fs

3 papers

NM_174936.4

p.V423A

c.1268T>C

12 papers

NM_174936.4

p.I424V

c.1270A>G