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

1–12 of 415 variants

50 papers

NM_002569.4

p.N440K

c.1320T>A

50 papers

NM_002569.4

p.N440K

c.1320T>G

11 papers

NM_002569.4

p.R81C

c.241C>T

11 papers

NM_002569.4

p.V213G

c.638T>G

9 papers

NM_002569.4

p.S494P

c.1480T>C

7 papers

NM_002569.4

p.D63G

c.188A>G

7 papers

NM_002569.4

p.H69del1

c.205_206delCAT

6 papers

NM_002569.4

p.Y142*

c.426C>G

6 papers

NM_002569.4

p.L455F

c.1363C>T

6 papers

NM_002569.4

p.R745Q

c.2234G>A

5 papers

NM_002569.4

p.A43V

c.128C>T

5 papers

NM_002569.4

p.Y142*

c.426C>A