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.D247H

c.739G>C

Surrounding Variants

1 paper

NM_000439.5

p.D247Y

c.739G>T

1 paper

NM_000439.5

p.D247N

c.739G>A

1 paper

NM_000439.5

p.D247V

c.740A>T

1 paper

NM_000439.5

p.D247G

c.740A>G

1 paper

NM_000439.5

p.D247A

c.740A>C

1 paper

NM_000439.5

p.D247E

c.741T>G

1 paper

NM_000439.5

p.D247E

c.741T>A

2 papers

NM_000439.5

p.T246M

c.737C>T

1 paper

NM_000439.5

p.T246R

c.737C>G

1 paper

NM_000439.5

p.T246K

c.737C>A

1 paper

NM_000439.5

p.A248P

c.742G>C

1 paper

NM_000439.5

p.T246A

c.736A>G