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

9 papers

NM_002569.4

p.S494P

c.1480T>C

Surrounding Variants

4 papers

NM_002569.4

p.T492I

c.1475C>T

1 paper

NM_002569.4

p.R497S

c.1489C>A

1 paper

NM_002569.4

p.A489V

c.1466C>T

2 papers

NM_002569.4

p.R483Q

c.1448G>A

1 paper

NM_002569.4

p.R483W

c.1447C>T

1 paper

NM_002569.4

p.V506A

c.1517T>C

1 paper

NM_002569.4

p.S507fs

c.1519_1520fs

2 papers

NM_002569.4

p.S507G

c.1519A>G

1 paper

NM_002569.4

p.G476A

c.1427G>C

2 papers

NM_002569.4

p.G476S

c.1426G>A

1 paper

NM_002569.4

p.T472T

c.1416C>T

1 paper

NM_002569.4

p.R519G

c.1555A>G