Gene Variant Detail

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Gene CBL
Variant E369_Y371del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CBL E369_Y371del results in the deletion of three amino acids in the linker region of the Cbl protein from amino acids 369 to 371 (UniProt.org). E369_Y371del has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL E369_Y371del

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Transcript NM_005188.4
gDNA chr11:g.119278175_119278183delGAATTATAC
cDNA c.1105_1113delGAATTATAC
Protein p.E369_Y371delELY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278175_119278183delGAATTATAC c.1105_1113delGAATTATAC p.E369_Y371delELY RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278175_119278183delGAATTATAC c.1105_1113delGAATTATAC p.E369_Y371delELY RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278175_119278183delGAATTATAC c.1105_1113delGAATTATAC p.E369_Y371delELY RefSeq GRCh38/hg38
XM_017018511 chr11:g.119285210_119285218delAAAGACAAA c.1105_1113delAAAGACAAA p.K369_K371delKDK RefSeq GRCh38/hg38
NM_005188 chr11:g.119278175_119278183delGAATTATAC c.1105_1113delGAATTATAC p.E369_Y371delELY RefSeq GRCh38/hg38

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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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References