KEGG   VARIANT: 581v1
Entry
581v1                      Variant                                 
Name
BAX mutation
Type
Loss of function
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 (cancer)
nt06260  Colorectal cancer
nt06524  Apoptosis
Disease
H00020  Colorectal cancer
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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