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

2 papers

NM_000439.5

p.W268R

c.802T>C

Surrounding Variants

1 paper

NM_000439.5

p.W268G

c.802T>G

1 paper

NM_000439.5

p.W268R

c.802T>A

1 paper

NM_000439.5

p.W268L

c.803G>T

1 paper

NM_000439.5

p.W268S

c.803G>C

1 paper

NM_000439.5

p.S267R

c.801C>G

1 paper

NM_000439.5

p.S267R

c.801C>A

1 paper

NM_000439.5

p.W268C

c.804G>T

1 paper

NM_000439.5

p.S267I

c.800G>T

1 paper

NM_000439.5

p.W268C

c.804G>C

1 paper

NM_000439.5

p.S267T

c.800G>C

1 paper

NM_000439.5

p.S267N

c.800G>A

1 paper

NM_000439.5

p.G269C

c.805G>T