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

2 papers

NM_002594.5

p.S349P

c.1045T>C

Surrounding Variants

1 paper

NM_002594.5

p.D344E

c.1032C>G

1 paper

NM_002594.5

p.D344D

c.1032C>T

1 paper

NM_002594.5

p.D344N

c.1030G>A

1 paper

NM_002594.5

p.N357K

c.1071C>A

1 paper

NM_002594.5

p.N357K

c.1071C>G

1 paper

NM_002594.5

p.K360K

c.1080A>G

1 paper

NM_002594.5

p.G366A

c.1097G>C

1 paper

NM_002594.5

p.S325N

c.974G>A

1 paper

NM_002594.5

p.S325fs

c.973_974fs

1 paper

NM_002594.5

p.S325delFs

c.974delG

1 paper

NM_002594.5

p.D320N

c.958G>A

1 paper

NM_002594.5

p.V305M

c.913G>A