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.A511V

c.1532C>T

Surrounding Variants

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

20 papers

NM_174936.4

p.F515L

c.1543T>C

1 paper

NM_174936.4

p.L507V

c.1519C>G

21 papers

NM_174936.4

p.F515L

c.1545T>A

21 papers

NM_174936.4

p.F515L

c.1545T>G

3 papers

NM_174936.4

p.G516R

c.1546G>A

2 papers

NM_174936.4

p.G516R

c.1546G>C

1 paper

NM_174936.4

p.G517_G519delFs

c.1549_1555del7

1 paper

NM_174936.4

p.K506R

c.1517A>G

1 paper

NM_174936.4

p.G516E

c.1547G>A