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.G561R

c.1681G>A

Surrounding Variants

1 paper

NM_002594.5

p.G561R

c.1681G>C

1 paper

NM_002594.5

p.T569I

c.1706C>T

1 paper

NM_002594.5

p.G548C

c.1642G>T

1 paper

NM_002594.5

p.V547M

c.1639G>A

1 paper

NM_002594.5

p.R539H

c.1616G>A

1 paper

NM_002594.5

p.T588A

c.1762A>G

1 paper

NM_002594.5

p.G593R

c.1777G>C

1 paper

NM_002594.5

p.Q595L

c.1784A>T

1 paper

NM_002594.5

p.M525_T526ins7

c.1573_1577ins21

1 paper

NM_002594.5

p.M525V

c.1573A>G

1 paper

NM_002594.5

p.R518*

c.1552A>T

1 paper

NM_002594.5

p.T512M

c.1535C>T