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.G308R

c.922G>A

Surrounding Variants

1 paper

NM_000439.5

p.G308R

c.922G>C

1 paper

NM_000439.5

p.G308V

c.923G>T

1 paper

NM_000439.5

p.G308A

c.923G>C

1 paper

NM_000439.5

p.G308E

c.923G>A

14 papers

NM_000439.5

p.S307L

c.920C>T

1 paper

NM_000439.5

p.S307W

c.920C>G

1 paper

NM_000439.5

p.S307P

c.919T>C

1 paper

NM_000439.5

p.N309Y

c.925A>T

2 papers

NM_000439.5

p.N309D

c.925A>G

1 paper

NM_000439.5

p.N309H

c.925A>C

1 paper

NM_000439.5

p.N309I

c.926A>T

1 paper

NM_000439.5

p.N309T

c.926A>C