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

1 paper

NM_001372043.1

p.E470D

c.1410G>C

Surrounding Variants

1 paper

NM_001372043.1

p.E470D

c.1410G>T

1 paper

NM_001372043.1

p.R474Q

c.1421G>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

1 paper

NM_001372043.1

p.V438Splc

c.1313-151C>G

1 paper

NM_001372043.1

p.T478K

c.1433C>A

4 papers

NM_001372043.1

p.R486H

c.1457G>A

1 paper

NM_001372043.1

p.S487F

c.1460C>T

1 paper

NM_001372043.1

p.S495S

c.1485G>A

1 paper

NM_001372043.1

p.N497fs

c.1489_1490fs

1 paper

NM_001372043.1

p.N497insFs

c.1490_1491ins4