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

12 papers

NM_000439.5

p.E250*

c.748G>T

Surrounding Variants

1 paper

NM_000439.5

p.E250Q

c.748G>C

1 paper

NM_000439.5

p.E250K

c.748G>A

1 paper

NM_000439.5

p.E250V

c.749A>T

1 paper

NM_000439.5

p.E250G

c.749A>G

1 paper

NM_000439.5

p.E250A

c.749A>C

1 paper

NM_000439.5

p.E250D

c.750G>T

1 paper

NM_000439.5

p.E250D

c.750G>C

1 paper

NM_000439.5

p.A251P

c.751G>C

1 paper

NM_000439.5

p.A251T

c.751G>A

1 paper

NM_000439.5

p.A251V

c.752C>T

1 paper

NM_000439.5

p.A251D

c.752C>A

1 paper

NM_000439.5

p.A248D

c.743C>A