Varaico: Literature-Extracted Genetic Variants

PCSK6

86 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 73–149UCSCPeptidase S8 pro-domain

Peptidase_S8aa 196–479UCSCSubtilase family

P_proproteinaa 539–624UCSCProprotein convertase P-domain

P_proproteinaa 539–629UCSCProprotein convertase P-domain

GF_recep_IVaa 694–812UCSCGrowth factor receptor domain IV

PLACaa 935–966UCSCPLAC (protease and lacunin) domain

Gene Aliases

HGNC Name

proprotein convertase subtilisin/kexin type 6

HGNC Previous Symbol

PACE4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 65 variants

3 papers

NM_002570.5

p.T964M

c.2891C>T

2 papers

NM_002570.5

p.D282N

c.844G>A

2 papers

NM_002570.5

p.S291L

c.872C>T

1 paper

NM_002570.5

p.P2A

c.4C>G

1 paper

NM_002570.5

p.P7L

c.20C>T

1 paper

NM_002570.5

p.T23ins2

c.68_69ins6

1 paper

NM_002570.5

p.G32D

c.95G>A

1 paper

NM_002570.5

p.G34_G35insFs

c.102_103insA

1 paper

NM_002570.5

p.A30_A36ins2

c.90_107dup18

1 paper

NM_002570.5

p.L55ins0

c.163_165dupCTG

1 paper

NM_002570.5

p.A63insFs

c.187_188insG

1 paper

NM_002570.5

p.A63insFs

c.187_188dupGC