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

1–12 of 215 variants

5 papers

NM_001372043.1

p.R215H

c.644G>A

4 papers

NM_001372043.1

p.M452I

c.1356G>A

4 papers

NM_001372043.1

p.M452I

c.1356G>C

4 papers

NM_001372043.1

p.M452I

c.1356G>T

4 papers

NM_001372043.1

p.R486H

c.1457G>A

4 papers

NM_001372043.1

p.E1414Q

c.4240G>C

4 papers

NM_001372043.1

p.H1699Q

c.5097C>A

3 papers

NM_001372043.1

p.T288P

c.862A>C

3 papers

NM_001372043.1

p.A565T

c.1693G>A

3 papers

NM_001372043.1

p.G1090S

c.3268G>A

3 papers

NM_001372043.1

p.N1320D

c.3958A>G

3 papers

NM_001372043.1

p.C1366Y

c.4097G>A