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.A151S

c.451G>T

Surrounding Variants

2 papers

NM_174936.4

p.A151T

c.451G>A

1 paper

NM_174936.4

p.A151G

c.452C>G

1 paper

NM_174936.4

p.Q152K

c.454C>A

2 papers

NM_174936.4

p.Q152E

c.454C>G

3 papers

NM_174936.4

p.Q152*

c.454C>T

2 papers

NM_174936.4

p.F150fs

c.448_449fs

1 paper

NM_174936.4

p.F150fs

c.448_449fs

1 paper

NM_174936.4

p.Q152P

c.455A>C

2 papers

NM_174936.4

p.Q152R

c.455A>G

1 paper

NM_174936.4

p.Q152L

c.455A>T

1 paper

NM_174936.4

p.S153_P155del0

c.457_465del9

1 paper

NM_174936.4

p.F150insFs

c.450dupT