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.E215D

c.645A>T

Surrounding Variants

1 paper

NM_000439.5

p.E215D

c.645A>C

1 paper

NM_000439.5

p.E215V

c.644A>T

1 paper

NM_000439.5

p.E215G

c.644A>G

1 paper

NM_000439.5

p.E215A

c.644A>C

1 paper

NM_000439.5

p.I216S

c.647T>G

2 papers

NM_000439.5

p.I216T

c.647T>C

1 paper

NM_000439.5

p.E215K

c.643G>A

1 paper

NM_000439.5

p.G214V

c.641G>T

1 paper

NM_000439.5

p.A217P

c.649G>C

1 paper

NM_000439.5

p.G214E

c.641G>A

14 papers

NM_000439.5

p.A213del1

c.637_638delTGC

1 paper

NM_000439.5

p.G214R

c.640G>C