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

2 papers

NM_000439.5

p.P710R

c.2129C>G

Surrounding Variants

1 paper

NM_000439.5

p.P710L

c.2129C>T

1 paper

NM_000439.5

p.S711insFs

c.2131_2132insA

1 paper

NM_000439.5

p.D715Y

c.2143G>T

1 paper

NM_000439.5

p.E717D

c.2151A>T

1 paper

NM_000439.5

p.E717D

c.2151A>C

1 paper

NM_000439.5

p.D718G

c.2153A>G

1 paper

NM_000439.5

p.E702A

c.2105A>C

3 papers

NM_000439.5

p.E702K

c.2104G>A

1 paper

NM_000439.5

p.S719R

c.2155A>C

1 paper

NM_000439.5

p.Y701C

c.2102A>G

1 paper

NM_000439.5

p.S719R

c.2157T>G

1 paper

NM_000439.5

p.S719R

c.2157T>A