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.K51R

c.152A>G

Surrounding Variants

1 paper

NM_002569.4

p.H52Y

c.154C>T

2 papers

NM_002569.4

p.V48A

c.143T>C

1 paper

NM_002569.4

p.V48_A49delFs

c.142_145del4

1 paper

NM_002569.4

p.N46S

c.137A>G

1 paper

NM_002569.4

p.N46I

c.137A>T

1 paper

NM_002569.4

p.G58R

c.172G>C

1 paper

NM_002569.4

p.A45delFs

c.133_134delGC

1 paper

NM_002569.4

p.G58A

c.173G>C

5 papers

NM_002569.4

p.A43V

c.128C>T

2 papers

NM_002569.4

p.A43T

c.127G>A

1 paper

NM_002569.4

p.G40delFs

c.118delG

1 paper

NM_002569.4

p.P39insFs

c.116_117insT