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.E85D

c.255G>T

Surrounding Variants

1 paper

NM_174936.4

p.E85A

c.254A>C

1 paper

NM_174936.4

p.T86A

c.256A>G

4 papers

NM_174936.4

p.E85K

c.253G>A

2 papers

NM_174936.4

p.E85Q

c.253G>C

1 paper

NM_174936.4

p.E84A

c.251A>C

2 papers

NM_174936.4

p.E84K

c.250G>A

1 paper

NM_174936.4

p.H87Q

c.261C>A

1 paper

NM_174936.4

p.H87Q

c.261C>G

1 paper

NM_174936.4

p.H87_L88delins

c.261_262delinsGA

1 paper

NM_174936.4

p.K83K

c.249G>A

2 papers

NM_174936.4

p.K83R

c.248A>G

1 paper

NM_174936.4

p.K83M

c.248A>T