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.T350I

c.1049C>T

Surrounding Variants

1 paper

NM_000439.5

p.T350R

c.1049C>G

1 paper

NM_000439.5

p.T350K

c.1049C>A

1 paper

NM_000439.5

p.L351R

c.1052T>G

1 paper

NM_000439.5

p.L351P

c.1052T>C

1 paper

NM_000439.5

p.S349F

c.1046C>T

1 paper

NM_000439.5

p.S349Y

c.1046C>A

1 paper

NM_000439.5

p.S349P

c.1045T>C

1 paper

NM_000439.5

p.S349T

c.1045T>A

1 paper

NM_000439.5

p.A352S

c.1054G>T

1 paper

NM_000439.5

p.A352P

c.1054G>C

2 papers

NM_000439.5

p.S348F

c.1043C>T

1 paper

NM_000439.5

p.A352D

c.1055C>A