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.P66R

c.197C>G

Surrounding Variants

1 paper

NM_017573.5

p.Q69_Y70insAG

c.205_209ins6

1 paper

NM_017573.5

p.G68delFs

c.202delC

1 paper

NM_017573.5

p.Y70_F71insT

c.208_212ins3

1 paper

NM_017573.5

p.Y70F

c.209A>T

1 paper

NM_017573.5

p.R74G

c.220C>G

1 paper

NM_017573.5

p.H75L

c.224A>T

1 paper

NM_017573.5

p.T84I

c.251C>T

1 paper

NM_017573.5

p.P85Q

c.254C>A

2 papers

NM_017573.5

p.R90H

c.269G>A

1 paper

NM_017573.5

p.L52P

c.155T>C

1 paper

NM_017573.5

p.Q44K

c.130C>A

1 paper

NM_017573.5

p.V24insFs

c.70_71insT