Varaico: Literature-Extracted Genetic Variants

PCSK2

250 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 33–109UCSCPeptidase S8 pro-domain

Peptidase_S8aa 158–445UCSCSubtilase family

P_proproteinaa 504–591UCSCProprotein convertase P-domain

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 2

HGNC Previous Symbol

NEC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002594.5

p.H33L

c.98A>T

Surrounding Variants

2 papers

NM_002594.5

p.L35P

c.104T>C

1 paper

NM_002594.5

p.V36L

c.106G>T

1 paper

NM_002594.5

p.G41E

c.122G>A

2 papers

NM_002594.5

p.S24C

c.71C>G

1 paper

NM_002594.5

p.S24A

c.70T>G

1 paper

NM_002594.5

p.S24_V29delFs

c.70_85del16

1 paper

NM_002594.5

p.A23T

c.67G>A

1 paper

NM_002594.5

p.A23S

c.67G>T

1 paper

NM_002594.5

p.R47S

c.139C>A

1 paper

NM_002594.5

p.V19I

c.55G>A

1 paper

NM_002594.5

p.C18G

c.52T>G

1 paper

NM_002594.5

p.F17S

c.50T>C