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.A217D

c.650C>A

Surrounding Variants

2 papers

NM_000439.5

p.A217V

c.650C>T

1 paper

NM_000439.5

p.A217P

c.649G>C

1 paper

NM_000439.5

p.M218L

c.652A>T

1 paper

NM_000439.5

p.M218V

c.652A>G

1 paper

NM_000439.5

p.M218L

c.652A>C

1 paper

NM_000439.5

p.M218R

c.653T>G

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.M218T

c.653T>C

1 paper

NM_000439.5

p.M218K

c.653T>A

2 papers

NM_000439.5

p.M218I

c.654G>T

2 papers

NM_000439.5

p.M218I

c.654G>C