Varaico: Literature-Extracted Genetic Variants

PCSK4

103 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 37–113UCSCPeptidase S8 pro-domain

Peptidase_S8aa 149–432UCSCSubtilase family

P_proproteinaa 489–575UCSCProprotein convertase P-domain

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 4

HGNC Alias Symbols

PC4; SPC5; DKFZp434B217; MGC34749

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017573.5

p.M382I

c.1146G>C

Surrounding Variants

1 paper

NM_017573.5

p.M382I

c.1146G>T

1 paper

NM_017573.5

p.M382I

c.1146G>A

1 paper

NM_017573.5

p.A384T

c.1150G>A

1 paper

NM_017573.5

p.S375L

c.1124C>T

1 paper

NM_017573.5

p.T372I

c.1115C>T

2 papers

NM_017573.5

p.G364R

c.1090G>C

2 papers

NM_017573.5

p.G364R

c.1090G>A

1 paper

NM_017573.5

p.I356_V357Splc

c.1069-5C>T

1 paper

NM_017573.5

p.P391Q

c.1172C>A

1 paper

NM_017573.5

p.V425delFs

c.1273delC

1 paper

NM_017573.5

p.D435Y

c.1303G>T

1 paper

NM_017573.5

p.R444C

c.1330C>T