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.W305G

c.913T>G

Surrounding Variants

1 paper

NM_000439.5

p.W305R

c.913T>C

1 paper

NM_000439.5

p.W305R

c.913T>A

1 paper

NM_000439.5

p.W305L

c.914G>T

1 paper

NM_000439.5

p.W305S

c.914G>C

1 paper

NM_000439.5

p.V304G

c.911T>G

1 paper

NM_000439.5

p.V304D

c.911T>A

1 paper

NM_000439.5

p.W305C

c.915G>T

1 paper

NM_000439.5

p.W305C

c.915G>C

1 paper

NM_000439.5

p.V304F

c.910G>T

1 paper

NM_000439.5

p.A306P

c.916G>C

2 papers

NM_000439.5

p.V304I

c.910G>A

1 paper

NM_000439.5

p.A306T

c.916G>A