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.S330C

c.989C>G

Surrounding Variants

1 paper

NM_000439.5

p.S330F

c.989C>T

1 paper

NM_000439.5

p.S330Y

c.989C>A

1 paper

NM_000439.5

p.I331F

c.991A>T

1 paper

NM_000439.5

p.I331S

c.992T>G

1 paper

NM_000439.5

p.I331N

c.992T>A

1 paper

NM_000439.5

p.I329N

c.986T>A

1 paper

NM_000439.5

p.I329V

c.985A>G

1 paper

NM_000439.5

p.S332C

c.994A>T

1 paper

NM_000439.5

p.S332G

c.994A>G

1 paper

NM_000439.5

p.S332R

c.994A>C

1 paper

NM_000439.5

p.T328I

c.983C>T

1 paper

NM_000439.5

p.T328N

c.983C>A