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.G281R

c.841G>C

Surrounding Variants

1 paper

NM_000439.5

p.G281C

c.841G>T

1 paper

NM_000439.5

p.G281V

c.842G>T

1 paper

NM_000439.5

p.P280L

c.839C>T

1 paper

NM_000439.5

p.P280R

c.839C>G

1 paper

NM_000439.5

p.P280H

c.839C>A

1 paper

NM_000439.5

p.R282W

c.844C>T

1 paper

NM_000439.5

p.P280S

c.838C>T

1 paper

NM_000439.5

p.R282G

c.844C>G

1 paper

NM_000439.5

p.R282Q

c.845G>A

1 paper

NM_000439.5

p.G279V

c.836G>T

1 paper

NM_000439.5

p.G279A

c.836G>C

1 paper

NM_000439.5

p.G279W

c.835G>T