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

2 papers

NM_002569.4

p.V747L

c.2239G>T

Surrounding Variants

2 papers

NM_002569.4

p.V747L

c.2239G>C

1 paper

NM_002569.4

p.G746W

c.2236G>T

6 papers

NM_002569.4

p.R745Q

c.2234G>A

1 paper

NM_002569.4

p.T751P

c.2251A>C

1 paper

NM_002569.4

p.D753N

c.2257G>A

2 papers

NM_002569.4

p.R739H

c.2216G>A

2 papers

NM_002569.4

p.V735I

c.2203G>A

1 paper

NM_002569.4

p.V730I

c.2188G>A

2 papers

NM_002569.4

p.V728I

c.2182G>A

1 paper

NM_002569.4

p.Q768Q

c.2304G>A

1 paper

NM_002569.4

p.E769Q

c.2305G>C

1 paper

NM_002569.4

p.S773A

c.2317T>G