KEGG   VARIANT: 7018v1
Entry
7018v1                      Variant                                
Name
TF mutation
Type
Loss of function
Gene
TF  transferrin [KO:K14736]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 190000
Network
nt06525  Ferroptosis
Disease
H01145  Atransferrinemia
Reference
PMID:18097132
  Authors
Aslan D, Crain K, Beutler E
  Title
A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene.
  Journal
Acta Haematol 118:244-7 (2007)
DOI:10.1159/000112726
Reference
PMID:26166707
  Authors
Gao M, Monian P, Quadri N, Ramasamy R, Jiang X
  Title
Glutaminolysis and Transferrin Regulate Ferroptosis.
  Journal
Mol Cell 59:298-308 (2015)
DOI:10.1016/j.molcel.2015.06.011
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