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

9 papers

NM_000439.5

p.P258T

c.772C>A

Surrounding Variants

2 papers

NM_000439.5

p.N257K

c.771T>A

1 paper

NM_000439.5

p.H260R

c.779A>G

1 paper

NM_000439.5

p.H260P

c.779A>C

1 paper

NM_000439.5

p.G255E

c.764G>A

1 paper

NM_000439.5

p.V261L

c.781G>T

2 papers

NM_000439.5

p.G255R

c.763G>C

1 paper

NM_000439.5

p.V261L

c.781G>C

2 papers

NM_000439.5

p.G255R

c.763G>A

1 paper

NM_000439.5

p.V261M

c.781G>A

2 papers

NM_000439.5

p.V261G

c.782T>G

1 paper

NM_000439.5

p.V261A

c.782T>C

1 paper

NM_000439.5

p.V261E

c.782T>A