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.A334T

c.1000G>A

Surrounding Variants

1 paper

NM_000439.5

p.A334P

c.1000G>C

1 paper

NM_000439.5

p.S333R

c.999T>G

1 paper

NM_000439.5

p.S333R

c.999T>A

1 paper

NM_000439.5

p.A334V

c.1001C>T

1 paper

NM_000439.5

p.A334G

c.1001C>G

1 paper

NM_000439.5

p.A334D

c.1001C>A

1 paper

NM_000439.5

p.S333I

c.998G>T

1 paper

NM_000439.5

p.S333T

c.998G>C

1 paper

NM_000439.5

p.S333N

c.998G>A

1 paper

NM_000439.5

p.S335A

c.1003T>G

1 paper

NM_000439.5

p.S335P

c.1003T>C

1 paper

NM_000439.5

p.S333C

c.997A>T