Varaico: Literature-Extracted Genetic Variants

PCSK5

198 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 38–114UCSCPeptidase S8 pro-domain

Peptidase_S8aa 162–445UCSCSubtilase family

P_proproteinaa 505–595UCSCProprotein convertase P-domain

GF_recep_IVaa 635–757UCSCGrowth factor receptor domain IV

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 5

HGNC Alias Symbols

PC5; PC6; SPC6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001372043.1

p.H1699Q

c.5097C>A

Surrounding Variants

1 paper

NM_001372043.1

p.M1724I

c.5172G>A

3 papers

NM_001372043.1

p.D1726N

c.5176G>A

1 paper

NM_001190482.2

p.D1699insFs

c.5095_5096insCC

1 paper

NM_001190482.2

p.D1699fs

c.5095_5096fs

1 paper

NM_001372043.1

p.L1730V

c.5188C>G

1 paper

NM_001372043.1

p.L1681V

c.5041C>G

1 paper

NM_001372043.1

p.G1805R

c.5413G>C

1 paper

NM_001372043.1

p.E1844K

c.5530G>A

1 paper

NM_001372043.1

p.Y1886C

c.5657A>G