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.K86N

c.258G>T

Surrounding Variants

1 paper

NM_002594.5

p.K86N

c.258G>C

1 paper

NM_002594.5

p.Q88H

c.264G>C

1 paper

NM_002594.5

p.Q88H

c.264G>T

1 paper

NM_002594.5

p.L83Q

c.248T>A

2 papers

NM_002594.5

p.R81H

c.242G>A

1 paper

NM_002594.5

p.R81C

c.241C>T

2 papers

NM_002594.5

p.R80K

c.239G>A

1 paper

NM_002594.5

p.P93L

c.278C>T

1 paper

NM_002594.5

p.A77V

c.230C>T

1 paper

NM_002594.5

p.A77S

c.229G>T

1 paper

NM_002594.5

p.K76T

c.227A>C

1 paper

NM_002594.5

p.G73S

c.217G>A