KEGG   VARIANT: 4780v1Help
Entry
4780v1                      Variant                                

Name
NFE2L2 mutation
Gene
NFE2L2  nuclear factor, erythroid 2 like 2 [KO:K05638]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation D29G
ClinVar: 376464
dbSNP: rs1057519921
COSM: 132858
Variation
mutation T80P
COSM: 132988
Variation
mutation G81V
COSM: 132961
Variation
mutation D29H
ClinVar: 376461
dbSNP: rs1057519920
COSM: 124736
Variation
mutation E82D
COSM: 132860
Variation
mutation E82G
COSM: 132853
Network
nt06226  KEAP1-NRF2 signaling
nt06263  Hepatocellular carcinoma
  Element
N00245  Mutation-activated NRF2 to KEAP1-NRF2 signaling pathway
Reference
  Authors
Guichard C, Amaddeo G, Imbeaud S, Ladeiro Y, Pelletier L, Maad IB, Calderaro J, Bioulac-Sage P, Letexier M, Degos F, Clement B, Balabaud C, Chevet E, Laurent A, Couchy G, Letouze E, Calvo F, Zucman-Rossi J
  Title
Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma.
  Journal
Nat Genet 44:694-8 (2012)
DOI:10.1038/ng.2256
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