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.D131insFs

c.391_392ins4

Surrounding Variants

1 paper

NM_002569.4

p.D131insFs

c.392_393ins4

1 paper

NM_002569.4

p.N133_V134del2

c.397_401del6

1 paper

NM_002569.4

p.V134M

c.400G>A

3 papers

NM_002569.4

p.V127F

c.379G>T

1 paper

NM_002569.4

p.K135E

c.403A>G

1 paper

NM_002569.4

p.G126D

c.377G>A

1 paper

NM_002569.4

p.G126C

c.376G>T

1 paper

NM_002569.4

p.A136P

c.406G>C

1 paper

NM_002569.4

p.A137G

c.410C>G

1 paper

NM_002569.4

p.A139T

c.415G>A

3 papers

NM_002569.4

p.A139V

c.416C>T

1 paper

NM_002569.4

p.Q140P

c.419A>C