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.D154N

c.460G>A

Surrounding Variants

1 paper

NM_002569.4

p.D154fs

c.460_461fs

1 paper

NM_002569.4

p.D154_G155insFs

c.462_463insGT

1 paper

NM_002569.4

p.D153A

c.458A>C

2 papers

NM_002569.4

p.D153N

c.457G>A

1 paper

NM_002569.4

p.I151V

c.451A>G

1 paper

NM_002569.4

p.K158K

c.474G>A

1 paper

NM_002569.4

p.K158N

c.474G>C

1 paper

NM_002569.4

p.K158N

c.474G>T

1 paper

NM_002569.4

p.V149A

c.446T>C

1 paper

NM_002569.4

p.V148M

c.442G>A

1 paper

NM_002569.4

p.P161Q

c.482C>A

5 papers

NM_002569.4

p.G146S

c.436G>A