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.L7F

c.21G>C

Surrounding Variants

1 paper

NM_002569.4

p.L7F

c.21G>T

1 paper

NM_002569.4

p.L8I

c.22C>A

1 paper

NM_002569.4

p.L7*

c.20T>A

1 paper

NM_002569.4

p.L7M

c.19T>A

1 paper

NM_002569.4

p.L7V

c.19T>G

1 paper

NM_002569.4

p.P5A

c.13C>G

1 paper

NM_002569.4

p.P5S

c.13C>T

2 papers

NM_002569.4

p.V10A

c.29T>C

1 paper

NM_002569.4

p.R4S

c.12G>C

1 paper

NM_002569.4

p.R4K

c.11G>A

1 paper

NM_002569.4

p.V11I

c.31G>A

2 papers

NM_002569.4

p.A12G

c.35C>G