Varaico: Literature-Extracted Genetic Variants

FURIN

795 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 33–107UCSCPeptidase S8 pro-domain

Peptidase_S8aa 144–427UCSCSubtilase family

P_proproteinaa 484–570UCSCProprotein convertase P-domain

Gene Aliases

HGNC Name

furin, paired basic amino acid cleaving enzyme

HGNC Previous Symbols

PCSK3; FUR; PACE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002569.4

p.E715Q

c.2143G>C

Surrounding Variants

1 paper

NM_002569.4

p.L713L

c.2137C>T

2 papers

NM_002569.4

p.H712Y

c.2134C>T

2 papers

NM_002569.4

p.G719S

c.2155G>A

1 paper

NM_002569.4

p.G719C

c.2155G>T

1 paper

NM_002569.4

p.G719A

c.2156G>C

1 paper

NM_002569.4

p.P710_S711delFs

c.2129_2132del4

1 paper

NM_002569.4

p.A706S

c.2116G>T

2 papers

NM_002569.4

p.V728I

c.2182G>A

1 paper

NM_002569.4

p.G701A

c.2102G>C

1 paper

NM_002569.4

p.V730I

c.2188G>A

2 papers

NM_002569.4

p.V735I

c.2203G>A

1 paper

NM_002569.4

p.L694L

c.2082G>C