KEGG   VARIANT: 581v1
Entry
581v1                      Variant                                 

Name
BAX mutation
Gene
BAX  BCL2 associated X, apoptosis regulator [KO:K02159]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation E41Gfs
ClinVar: 9511
dbSNP: rs398122840
Variation
mutation E41Rfs
ClinVar: 9512
dbSNP: rs398122841
Network
nt06231  Apoptosis
nt06260  Colorectal cancer
  Element
N00099  Mutation-inactivated BAX to apoptotic pathway
Reference
PMID:9020077
  Authors
Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed JC, Perucho M
  Title
Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype.
  Journal
Science 275:967-9 (1997)
DOI:10.1126/science.275.5302.967
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