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.V585delFs

c.1755delC

Surrounding Variants

1 paper

NM_000439.5

p.I584S

c.1751T>G

1 paper

NM_000439.5

p.I584N

c.1751T>A

1 paper

NM_000439.5

p.L589R

c.1766T>G

1 paper

NM_000439.5

p.L589P

c.1766T>C

1 paper

NM_000439.5

p.G582V

c.1745G>T

1 paper

NM_000439.5

p.G582A

c.1745G>C

1 paper

NM_000439.5

p.G582E

c.1745G>A

1 paper

NM_000439.5

p.G582R

c.1744G>C

1 paper

NM_000439.5

p.G582R

c.1744G>A

1 paper

NM_000439.5

p.I590T

c.1769T>C

2 papers

NM_000439.5

p.N580K

c.1740T>G

1 paper

NM_000439.5

p.L591S

c.1772T>C