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.A213G

c.638C>G

Surrounding Variants

2 papers

NM_000439.5

p.A213V

c.638C>T

1 paper

NM_000439.5

p.A213E

c.638C>A

1 paper

NM_000439.5

p.A213S

c.637G>T

1 paper

NM_000439.5

p.A213P

c.637G>C

1 paper

NM_000439.5

p.A213T

c.637G>A

1 paper

NM_000439.5

p.C212W

c.636T>G

1 paper

NM_000439.5

p.C212*

c.636T>A

1 paper

NM_000439.5

p.G214R

c.640G>C

1 paper

NM_000439.5

p.G214R

c.640G>A

1 paper

NM_000439.5

p.G214V

c.641G>T

1 paper

NM_000439.5

p.C212F

c.635G>T

1 paper

NM_000439.5

p.C212S

c.635G>C