VARIANT: 4780v1
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Entry
4780v1 Variant
Name
NFE2L2 mutation
Gene
NFE2L2
NFE2 like bZIP transcription factor 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 D29H
ClinVar:
376461
dbSNP:
rs1057519920
COSM:
124736
Variation
mutation G81V
COSM:
132961
Variation
mutation E82D
COSM:
132860
Variation
mutation E82G
COSM:
132853
Network
nt06226
KEAP1-NRF2 signaling (cancer)
nt06263
Hepatocellular carcinoma
Disease
H00048
Hepatocellular carcinoma
Reference
PMID:
22561517
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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