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

3 papers

NM_017573.5

p.P249L

c.746C>T

Surrounding Variants

1 paper

NM_017573.5

p.I240V

c.718A>G

1 paper

NM_017573.5

p.G234S

c.700G>A

1 paper

NM_017573.5

p.D264D

c.792C>T

2 papers

NM_017573.5

p.T267M

c.800C>T

1 paper

NM_017573.5

p.L274P

c.821T>C

1 paper

NM_017573.5

p.T275P

c.823A>C

1 paper

NM_017573.5

p.K285_G286Splc

c.855+1G>A

1 paper

NM_017573.5

p.K285_G286Splc

c.856-4C>T

1 paper

NM_017573.5

p.L303fs

c.907_908fs

1 paper

NM_017573.5

p.L303_H304delFs

c.907_910del4

1 paper

NM_017573.5

p.Y305insFs

c.913_914ins4

1 paper

NM_017573.5

p.Y305fs

c.913_914fs