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.E481A

c.1442A>C

Surrounding Variants

1 paper

NM_174936.4

p.E482_S488del7

c.1444_1463del21

2 papers

NM_174936.4

p.E482K

c.1444G>A

1 paper

NM_174936.4

p.E482Q

c.1444G>C

1 paper

NM_174936.4

p.E482*

c.1444G>T

1 paper

NM_174936.4

p.D480A

c.1439A>C

16 papers

NM_174936.4

p.E482G

c.1445A>G

5 papers

NM_174936.4

p.D480N

c.1438G>A

1 paper

NM_174936.4

p.L483V

c.1447C>G

1 paper

NM_174936.4

p.P479L

c.1436C>T

1 paper

NM_174936.4

p.L483L

c.1449G>T

2 papers

NM_174936.4

p.A478T

c.1432G>A

1 paper

NM_174936.4

p.S485fs

c.1453_1454fs