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

1–12 of 161 variants

4 papers

NM_002594.5

p.N221D

c.661A>G

3 papers

NM_002594.5

p.M1I

c.3G>A

3 papers

NM_002594.5

p.G435S

c.1303G>A

2 papers

NM_002594.5

p.M1I

c.3G>T

2 papers

NM_002594.5

p.S24C

c.71C>G

2 papers

NM_002594.5

p.L35P

c.104T>C

2 papers

NM_002594.5

p.R80K

c.239G>A

2 papers

NM_002594.5

p.R81H

c.242G>A

2 papers

NM_002594.5

p.L284F

c.850C>T

2 papers

NM_002594.5

p.S349P

c.1045T>C

2 papers

NM_002594.5

p.A400T

c.1198G>A

2 papers

NM_002594.5

p.E498K

c.1492G>A