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.H592N

c.1774C>A

Surrounding Variants

1 paper

NM_000439.5

p.H592P

c.1775A>C

1 paper

NM_000439.5

p.L591S

c.1772T>C

1 paper

NM_000439.5

p.G593W

c.1777G>T

17 papers

NM_000439.5

p.G593R

c.1777G>C

17 papers

NM_000439.5

p.G593R

c.1777G>A

1 paper

NM_000439.5

p.G593V

c.1778G>T

1 paper

NM_000439.5

p.G593A

c.1778G>C

1 paper

NM_000439.5

p.G593E

c.1778G>A

1 paper

NM_000439.5

p.I590T

c.1769T>C

1 paper

NM_000439.5

p.T594fs

c.1780_1781fs

1 paper

NM_000439.5

p.G593delFs

c.1779delC

1 paper

NM_000439.5

p.T594N

c.1781C>A