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.G228*

c.682G>T

Surrounding Variants

1 paper

NM_002594.5

p.V229L

c.685G>T

1 paper

NM_002594.5

p.G226R

c.676G>A

1 paper

NM_002594.5

p.G226R

c.676G>C

1 paper

NM_002594.5

p.I224M

c.672C>G

1 paper

NM_002594.5

p.Y231*

c.693C>A

1 paper

NM_002594.5

p.Y231*

c.693C>G

1 paper

NM_002594.5

p.N222T

c.665A>C

1 paper

NM_002594.5

p.N222D

c.664A>G

1 paper

NM_002594.5

p.K234R

c.701A>G

4 papers

NM_002594.5

p.N221D

c.661A>G

1 paper

NM_002594.5

p.V235D

c.704T>A

1 paper

NM_002594.5

p.A220V

c.659C>T