Varaico: Literature-Extracted Genetic Variants

PCSK1

439 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

S8_pro-domainaa 34–110UCSCPeptidase S8 pro-domain

Peptidase_S8aa 158–442UCSCSubtilase family

P_proproteinaa 504–591UCSCProprotein convertase P-domain

Proho_convertaa 713–751UCSCProhormone convertase enzyme

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 1

HGNC Previous Symbol

NEC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000439.5

p.C225W

c.675C>G

Surrounding Variants

1 paper

NM_000439.5

p.G226W

c.676G>T

1 paper

NM_000439.5

p.C225F

c.674G>T

6 papers

NM_000439.5

p.G226R

c.676G>C

1 paper

NM_000439.5

p.C225S

c.674G>C

6 papers

NM_000439.5

p.G226R

c.676G>A

1 paper

NM_000439.5

p.C225Y

c.674G>A

1 paper

NM_000439.5

p.C225G

c.673T>G

1 paper

NM_000439.5

p.C225R

c.673T>C

1 paper

NM_000439.5

p.C225S

c.673T>A

1 paper

NM_000439.5

p.G226V

c.677G>T

1 paper

NM_000439.5

p.G226E

c.677G>A

5 papers

NM_000439.5

p.V227fs

c.679_680fs