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

2 papers

NM_002569.4

p.R693Q

c.2078G>A

Surrounding Variants

1 paper

NM_002569.4

p.R693W

c.2077C>T

1 paper

NM_002569.4

p.L694P

c.2081T>C

1 paper

NM_002569.4

p.P692A

c.2074C>G

1 paper

NM_002569.4

p.L694L

c.2082G>C

1 paper

NM_002569.4

p.L694L

c.2082G>T

1 paper

NM_002569.4

p.P687A

c.2059C>G

2 papers

NM_002569.4

p.P686A

c.2056C>G

1 paper

NM_002569.4

p.G701A

c.2102G>C

3 papers

NM_002569.4

p.S685P

c.2053T>C

1 paper

NM_002569.4

p.S685A

c.2053T>G

1 paper

NM_002569.4

p.E684A

c.2051A>C

1 paper

NM_002569.4

p.E684V

c.2051A>T