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.G228R

c.682G>C

Surrounding Variants

1 paper

NM_000439.5

p.G228R

c.682G>A

2 papers

NM_000439.5

p.G228V

c.683G>T

1 paper

NM_000439.5

p.G228A

c.683G>C

1 paper

NM_000439.5

p.G228E

c.683G>A

1 paper

NM_000439.5

p.V227G

c.680T>G

1 paper

NM_000439.5

p.V227A

c.680T>C

1 paper

NM_000439.5

p.V227D

c.680T>A

4 papers

NM_000439.5

p.V227delFs

c.679delC

5 papers

NM_000439.5

p.V227fs

c.679_680fs

4 papers

NM_000439.5

p.V229F

c.685G>T

1 paper

NM_000439.5

p.V227F

c.679G>T

1 paper

NM_000439.5

p.V229insFs

c.685_686insA