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.T3delFs

c.9delC

Surrounding Variants

1 paper

NM_174936.4

p.T3N

c.8C>A

1 paper

NM_174936.4

p.T3S

c.8C>G

1 paper

NM_174936.4

p.T3_R7del5

c.7_20del15

2 papers

NM_174936.4

p.G2D

c.5G>A

1 paper

NM_174936.4

p.G2insFs

c.6dupC

37 papers

NM_174936.4

p.V4I

c.10G>A

2 papers

NM_174936.4

p.G2S

c.4G>A

1 paper

NM_174936.4

p.G2R

c.4G>C

1 paper

NM_174936.4

p.G2fs

c.4_5fs

1 paper

NM_174936.4

p.G2C

c.4G>T

1 paper

NM_174936.4

p.M1I

c.3G>C

1 paper

NM_174936.4

p.M1_G2insFs

c.3_4insC