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.F235L

c.703T>C

Surrounding Variants

1 paper

NM_001372043.1

p.F235Y

c.704T>A

1 paper

NM_001372043.1

p.F235L

c.705C>A

1 paper

NM_001372043.1

p.F235L

c.705C>G

1 paper

NM_001372043.1

p.A237T

c.709G>A

1 paper

NM_001372043.1

p.G240E

c.719G>A

1 paper

NM_001372043.1

p.A222A

c.666C>T

1 paper

NM_001372043.1

p.A223_A224del1

c.668_670delCTG

1 paper

NM_001372043.1

p.A222V

c.665C>T

5 papers

NM_001372043.1

p.R215H

c.644G>A

1 paper

NM_001372043.1

p.R215C

c.643C>T

1 paper

NM_001372043.1

p.K211_H212delFs

c.633_634delGC

2 papers

NM_001372043.1

p.R243Q

c.728G>A