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.C347W

c.1041C>G

Surrounding Variants

1 paper

NM_000439.5

p.C347F

c.1040G>T

1 paper

NM_000439.5

p.C347S

c.1040G>C

1 paper

NM_000439.5

p.C347Y

c.1040G>A

1 paper

NM_000439.5

p.C347G

c.1039T>G

1 paper

NM_000439.5

p.C347R

c.1039T>C

1 paper

NM_000439.5

p.C347S

c.1039T>A

2 papers

NM_000439.5

p.S348F

c.1043C>T

1 paper

NM_000439.5

p.S348Y

c.1043C>A

2 papers

NM_000439.5

p.K346N

c.1038G>T

2 papers

NM_000439.5

p.K346N

c.1038G>C

1 paper

NM_000439.5

p.S349P

c.1045T>C

1 paper

NM_000439.5

p.S349T

c.1045T>A