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.C317W

c.951T>G

Surrounding Variants

1 paper

NM_000439.5

p.D318Y

c.952G>T

1 paper

NM_000439.5

p.C317F

c.950G>T

1 paper

NM_000439.5

p.D318H

c.952G>C

1 paper

NM_000439.5

p.C317S

c.950G>C

1 paper

NM_000439.5

p.C317Y

c.950G>A

1 paper

NM_000439.5

p.C317G

c.949T>G

1 paper

NM_000439.5

p.C317R

c.949T>C

1 paper

NM_000439.5

p.C317S

c.949T>A

1 paper

NM_000439.5

p.N316K

c.948T>G

1 paper

NM_000439.5

p.N316K

c.948T>A

1 paper

NM_000439.5

p.C319G

c.955T>G

1 paper

NM_000439.5

p.C319R

c.955T>C