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.T276N

c.827C>A

Surrounding Variants

2 papers

NM_000439.5

p.T276I

c.827C>T

1 paper

NM_000439.5

p.T276P

c.826A>C

1 paper

NM_000439.5

p.V277G

c.830T>G

1 paper

NM_000439.5

p.V277E

c.830T>A

1 paper

NM_000439.5

p.K275Q

c.823A>C

1 paper

NM_000439.5

p.E278K

c.832G>A

1 paper

NM_000439.5

p.G274V

c.821G>T

1 paper

NM_000439.5

p.G274E

c.821G>A

1 paper

NM_000439.5

p.E278V

c.833A>T

1 paper

NM_000439.5

p.G274W

c.820G>T

1 paper

NM_000439.5

p.G274R

c.820G>C

1 paper

NM_000439.5

p.G274R

c.820G>A