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

12 papers

NM_000439.5

p.G209R

c.625G>A

Surrounding Variants

12 papers

NM_000439.5

p.G209R

c.625G>C

1 paper

NM_000439.5

p.G209V

c.626G>T

1 paper

NM_000439.5

p.G209A

c.626G>C

1 paper

NM_000439.5

p.G209E

c.626G>A

1 paper

NM_000439.5

p.H208H

c.624C>T

1 paper

NM_000439.5

p.H208Q

c.624C>G

1 paper

NM_000439.5

p.H208Q

c.624C>A

1 paper

NM_000439.5

p.H208L

c.623A>T

1 paper

NM_000439.5

p.H208R

c.623A>G

1 paper

NM_000439.5

p.H208P

c.623A>C

1 paper

NM_000439.5

p.H208Y

c.622C>T

1 paper

NM_000439.5

p.H208D

c.622C>G