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.D324Y

c.970G>T

Surrounding Variants

1 paper

NM_000439.5

p.D324H

c.970G>C

1 paper

NM_000439.5

p.T323R

c.968C>G

1 paper

NM_000439.5

p.T323K

c.968C>A

1 paper

NM_000439.5

p.S325R

c.973A>C

4 papers

NM_000439.5

p.S325N

c.974G>A

1 paper

NM_000439.5

p.S325R

c.975C>G

1 paper

NM_000439.5

p.S325R

c.975C>A

1 paper

NM_000439.5

p.Y322F

c.965A>T

1 paper

NM_000439.5

p.Y322C

c.965A>G

1 paper

NM_000439.5

p.Y322S

c.965A>C

1 paper

NM_000439.5

p.Y322D

c.964T>G

1 paper

NM_000439.5

p.Y322N

c.964T>A