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.R89W

c.265A>T

Surrounding Variants

1 paper

NM_002569.4

p.R89G

c.265A>G

1 paper

NM_002569.4

p.R89M

c.266G>T

1 paper

NM_002569.4

p.R89S

c.267G>C

1 paper

NM_002569.4

p.R89S

c.267G>T

1 paper

NM_002569.4

p.Q88K

c.262C>A

1 paper

NM_002569.4

p.E90insFs

c.268_269insT

1 paper

NM_002569.4

p.E90delFs

c.270delG

1 paper

NM_002569.4

p.L87Q

c.260T>A

3 papers

NM_002569.4

p.R86Q

c.257G>A

1 paper

NM_002569.4

p.S85R

c.255C>A

1 paper

NM_002569.4

p.H84Q

c.252C>A

1 paper

NM_002569.4

p.H84Q

c.252C>G