CBL R343*
Gene Variant Detail

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Gene CBL
Variant R343*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CBL R343* results in a premature truncation of the Cbl protein at amino acid 343 of 906 (UniProt.org). R343* has not been characterized however, due to the effects of other truncation mutations downstream of R343 (PMID: 23744067, PMID: 10617633), is predicted to lead to a loss of Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL inact mut CBL R343*

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Transcript NM_005188.4
gDNA chr11:g.119277776C>T
cDNA c.1027C>T
Protein p.R343*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119277776C>T c.1027C>T p.R343* RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119277776C>T c.1027C>T p.R343* RefSeq GRCh38/hg38
NM_005188 chr11:g.119277776C>T c.1027C>T p.R343* RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119277776C>T c.1027C>T p.R343* RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References