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.Q297Q

c.891G>A

Surrounding Variants

1 paper

NM_000439.5

p.G298R

c.892G>C

1 paper

NM_000439.5

p.G298R

c.892G>A

1 paper

NM_000439.5

p.Q297P

c.890A>C

1 paper

NM_000439.5

p.G298V

c.893G>T

1 paper

NM_000439.5

p.G298A

c.893G>C

1 paper

NM_000439.5

p.G298E

c.893G>A

1 paper

NM_000439.5

p.R296S

c.888A>T

1 paper

NM_000439.5

p.R296S

c.888A>C

2 papers

NM_000439.5

p.R296I

c.887G>T

1 paper

NM_000439.5

p.R296K

c.887G>A

1 paper

NM_000439.5

p.K299E

c.895A>G

1 paper

NM_000439.5

p.R296G

c.886A>G