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

Selected Variant

1 paper

NM_002570.5

p.I299V

c.895A>G

Surrounding Variants

1 paper

NM_002570.5

p.I294_Y302del0

c.882_905del24

2 papers

NM_002570.5

p.S291L

c.872C>T

1 paper

NM_002570.5

p.G307W

c.919G>T

1 paper

NM_002570.5

p.G312D

c.935G>A

1 paper

NM_002570.5

p.K313R

c.938A>G

2 papers

NM_002570.5

p.D282N

c.844G>A

1 paper

NM_002570.5

p.D280N

c.838G>A

1 paper

NM_002570.5

p.G333D

c.998G>A

1 paper

NM_002570.5

p.R350delFs

c.1049_1050delTC

1 paper

NM_002570.5

p.W380*

c.1139G>A

1 paper

NM_002570.5

p.A390P

c.1168G>C

1 paper

NM_002570.5

p.I403_V404Splc

c.1210-5C>G