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.K506R

c.1517A>G

Surrounding Variants

1 paper

NM_174936.4

p.K506fs

c.1516_1517fs

1 paper

NM_174936.4

p.K506Q

c.1516A>C

1 paper

NM_174936.4

p.K506fs

c.1516_1517fs

1 paper

NM_174936.4

p.L507V

c.1519C>G

1 paper

NM_174936.4

p.G505D

c.1514G>A

1 paper

NM_174936.4

p.K506_Y521del0

c.1516_1563del48

2 papers

NM_174936.4

p.G504W

c.1510G>T

1 paper

NM_174936.4

p.E501_A502Splc

c.1504-1G>A

1 paper

NM_174936.4

p.A511V

c.1532C>T

3 papers

NM_174936.4

p.N513D

c.1537A>G

1 paper

NM_174936.4

p.N513S

c.1538A>G

16 papers

NM_174936.4

p.A514T

c.1540G>A