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

3 papers

NM_001372043.1

p.G1090S

c.3268G>A

Surrounding Variants

1 paper

NM_001372043.1

p.S1091I

c.3272G>T

1 paper

NM_001372043.1

p.A1084V

c.3251C>T

2 papers

NM_001372043.1

p.E1079A

c.3236A>C

1 paper

NM_001372043.1

p.G1103S

c.3307G>A

1 paper

NM_001372043.1

p.E1136K

c.3406G>A

1 paper

NM_001372043.1

p.D1144D

c.3432C>T

1 paper

NM_001372043.1

p.Q1150_E1151delFs

c.3448_3452del5

1 paper

NM_001372043.1

p.Q1150fs

c.3448_3449fs

1 paper

NM_001372043.1

p.G1152V

c.3455G>T

1 paper

NM_001372043.1

p.L1153insFs

c.3458_3459ins5

1 paper

NM_001372043.1

p.Q1154fs

c.3460_3461fs

1 paper

NM_001372043.1

p.V1161M

c.3481G>A