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

1–12 of 108 variants

3 papers

NM_017573.5

p.P249L

c.746C>T

2 papers

NM_017573.5

p.L18F

c.52C>T

2 papers

NM_017573.5

p.R90H

c.269G>A

2 papers

NM_017573.5

p.T267M

c.800C>T

2 papers

NM_017573.5

p.G364R

c.1090G>C

2 papers

NM_017573.5

p.G364R

c.1090G>A

2 papers

NM_017573.5

p.P586L

c.1757C>T

1 paper

NM_017573.5

p.L8P

c.23T>C

1 paper

NM_017573.5

p.W9_L10insFs

c.27_28insA

1 paper

NM_017573.5

p.V19G

c.56T>G

1 paper

NM_017573.5

p.V19delFs

c.55delC

1 paper

NM_017573.5

p.A23_V24insFs

c.69_70insAG