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

11 papers

NM_002569.4

p.V213G

c.638T>G

Surrounding Variants

2 papers

NM_002569.4

p.V213E

c.638T>A

1 paper

NM_002569.4

p.V213I

c.637G>A

2 papers

NM_002569.4

p.G214C

c.640G>T

1 paper

NM_002569.4

p.G212V

c.635G>T

1 paper

NM_002569.4

p.C211_G212del2

c.631_635del6

1 paper

NM_002569.4

p.V210D

c.629T>A

1 paper

NM_002569.4

p.V210A

c.629T>C

1 paper

NM_002569.4

p.G209D

c.626G>A

1 paper

NM_002569.4

p.G209A

c.626G>C

1 paper

NM_002569.4

p.G209R

c.625G>C

3 papers

NM_002569.4

p.A219T

c.655G>A

1 paper

NM_002569.4

p.R220H

c.659G>A