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

2 papers

NM_001372043.1

p.H516P

c.1547A>C

Surrounding Variants

2 papers

NM_001372043.1

p.R511C

c.1531C>T

1 paper

NM_001372043.1

p.A523T

c.1567G>A

1 paper

NM_001372043.1

p.S528S

c.1584G>A

1 paper

NM_001372043.1

p.G531R

c.1591G>A

1 paper

NM_001372043.1

p.G531R

c.1591G>C

1 paper

NM_001372043.1

p.H501H

c.1503T>C

1 paper

NM_001372043.1

p.R500fs

c.1498_1499fs

2 papers

NM_001372043.1

p.R500C

c.1498C>T

1 paper

NM_001372043.1

p.N499insFs

c.1496_1497insC

1 paper

NM_001372043.1

p.N497insFs

c.1490_1491ins4

1 paper

NM_001372043.1

p.N497fs

c.1489_1490fs

1 paper

NM_001372043.1

p.S495S

c.1485G>A