KEGG   VARIANT: 9817v1Help
Entry
9817v1                      Variant                                

Name
KEAP1 mutation
Gene
KEAP1  kelch like ECH associated protein 1 [KO:K10456]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation D236Y
COSM: 6196635
Variation
mutation L342M
COSM: 6196636
Variation
mutation N183S
COSM: 6196637
Variation
mutation R336Q
COSM: 6196638
Network
nt06226  KEAP1-NRF2 signaling
nt06263  Hepatocellular carcinoma
  Element
N00244  Mutation-inactivated KEAP1 to KEAP1-NRF2 signaling pathway
Reference
  Authors
Yoo NJ, Kim HR, Kim YR, An CH, Lee SH
  Title
Somatic mutations of the KEAP1 gene in common solid cancers.
  Journal
Histopathology 60:943-52 (2012)
DOI:10.1111/j.1365-2559.2012.04178.x
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