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.Q313P

c.938A>C

Surrounding Variants

1 paper

NM_000439.5

p.R312H

c.935G>A

1 paper

NM_000439.5

p.R312S

c.934C>A

1 paper

NM_000439.5

p.D315Y

c.943G>T

1 paper

NM_000439.5

p.D315H

c.943G>C

1 paper

NM_000439.5

p.D315N

c.943G>A

1 paper

NM_000439.5

p.G311G

c.933G>A

1 paper

NM_000439.5

p.G311V

c.932G>T

1 paper

NM_000439.5

p.G311E

c.932G>A

1 paper

NM_000439.5

p.D315V

c.944A>T

1 paper

NM_000439.5

p.D315G

c.944A>G

1 paper

NM_000439.5

p.D315A

c.944A>C

1 paper

NM_000439.5

p.D315E

c.945T>G