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.Y231D

c.691T>G

Surrounding Variants

2 papers

NM_000439.5

p.Y231C

c.692A>G

6 papers

NM_000439.5

p.Y231*

c.693C>G

6 papers

NM_000439.5

p.Y231*

c.693C>A

1 paper

NM_000439.5

p.A230E

c.689C>A

1 paper

NM_000439.5

p.A230P

c.688G>C

1 paper

NM_000439.5

p.V229D

c.686T>A

1 paper

NM_000439.5

p.S233P

c.697T>C

4 papers

NM_000439.5

p.V229F

c.685G>T

1 paper

NM_000439.5

p.V229insFs

c.685_686insA

1 paper

NM_000439.5

p.S233F

c.698C>T

1 paper

NM_000439.5

p.S233Y

c.698C>A

2 papers

NM_000439.5

p.G228V

c.683G>T