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.D320Y

c.958G>T

Surrounding Variants

1 paper

NM_000439.5

p.D320H

c.958G>C

1 paper

NM_000439.5

p.D320N

c.958G>A

1 paper

NM_000439.5

p.C319W

c.957T>G

1 paper

NM_000439.5

p.D320V

c.959A>T

1 paper

NM_000439.5

p.D320G

c.959A>G

1 paper

NM_000439.5

p.D320A

c.959A>C

1 paper

NM_000439.5

p.D320E

c.960T>G

1 paper

NM_000439.5

p.D320E

c.960T>A

1 paper

NM_000439.5

p.C319S

c.956G>C

2 papers

NM_000439.5

p.C319Y

c.956G>A

1 paper

NM_000439.5

p.C319G

c.955T>G

1 paper

NM_000439.5

p.C319R

c.955T>C