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.C614F

c.1841G>T

Surrounding Variants

1 paper

NM_002569.4

p.C614Y

c.1841G>A

1 paper

NM_002569.4

p.P616L

c.1847C>T

3 papers

NM_002569.4

p.G617G

c.1851G>C

1 paper

NM_002569.4

p.C610R

c.1828T>C

2 papers

NM_002569.4

p.V622F

c.1864G>T

1 paper

NM_002569.4

p.D624N

c.1870G>A

1 paper

NM_002569.4

p.D624V

c.1871A>T

2 papers

NM_002569.4

p.T625T

c.1875G>A

1 paper

NM_002569.4

p.G602S

c.1804G>A

1 paper

NM_002569.4

p.T629A

c.1885A>G

2 papers

NM_002569.4

p.N631I

c.1892A>T

1 paper

NM_002569.4

p.V633L

c.1897G>C