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

6 papers

NM_002569.4

p.Y142*

c.426C>G

Surrounding Variants

5 papers

NM_002569.4

p.Y142*

c.426C>A

1 paper

NM_002569.4

p.Y142_H145del4

c.424_434del12

1 paper

NM_002569.4

p.Q140P

c.419A>C

1 paper

NM_002569.4

p.H145Y

c.433C>T

2 papers

NM_002569.4

p.H145H

c.435C>T

3 papers

NM_002569.4

p.A139V

c.416C>T

5 papers

NM_002569.4

p.G146S

c.436G>A

1 paper

NM_002569.4

p.A139T

c.415G>A

1 paper

NM_002569.4

p.A137G

c.410C>G

1 paper

NM_002569.4

p.V148M

c.442G>A

1 paper

NM_002569.4

p.A136P

c.406G>C

1 paper

NM_002569.4

p.V149A

c.446T>C