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

54 papers

NM_174936.4

p.G106R

c.316G>C

Surrounding Variants

51 papers

NM_174936.4

p.G106R

c.316G>A

1 paper

NM_174936.4

p.R105R

c.315G>C

1 paper

NM_174936.4

p.G106G

c.318A>G

7 papers

NM_174936.4

p.R105Q

c.314G>A

1 paper

NM_174936.4

p.R105L

c.314G>T

1 paper

NM_174936.4

p.G106_L112del0

c.316_336del21

8 papers

NM_174936.4

p.R105W

c.313C>T

1 paper

NM_174936.4

p.Y107*

c.321C>A

1 paper

NM_174936.4

p.Y107*

c.321C>G

4 papers

NM_174936.4

p.R104H

c.311G>A

1 paper

NM_174936.4

p.L108I

c.322C>A

40 papers

NM_174936.4

p.R104C

c.310C>T