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.K286T

c.857A>C

Surrounding Variants

1 paper

NM_000439.5

p.A287P

c.859G>C

2 papers

NM_000439.5

p.A287T

c.859G>A

1 paper

NM_000439.5

p.A287D

c.860C>A

1 paper

NM_000439.5

p.Q285P

c.854A>C

1 paper

NM_000439.5

p.F288C

c.863T>G

1 paper

NM_000439.5

p.F288S

c.863T>C

1 paper

NM_000439.5

p.A284D

c.851C>A

2 papers

NM_000439.5

p.A284P

c.850G>C

1 paper

NM_000439.5

p.L283R

c.848T>G

2 papers

NM_000439.5

p.L283P

c.848T>C

1 paper

NM_000439.5

p.L283Q

c.848T>A

1 paper

NM_000439.5

p.Y290H

c.868T>C