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Gene CBL
Variant L405R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL L405R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). L405R has been identified in sequencing studies (PMID: 31107544), but has not been biochemically 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 L405R

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Transcript NM_005188.4
gDNA chr11:g.119278284T>G
cDNA c.1214T>G
Protein p.L405R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119278284T>G c.1214T>G p.L405R RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278284T>G c.1214T>G p.L405R RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278284T>G c.1214T>G p.L405R RefSeq GRCh38/hg38
XM_017018511 chr11:g.119285318_119285319delTTinsAG c.1213_1214delTTinsAG p.L405R RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278284T>G c.1214T>G p.L405R 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")

Sorting

  • 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