Gene Variant Detail

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Gene CBL
Variant R420L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL R420L lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). R420L demonstrates retention of binding to Cin85 in the absence of growth factor stimulation in culture (PMID: 33627783) and is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been fully biochemically characterized and therefore, its effect on Cbl protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL R420L

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Transcript NM_005188.3
gDNA chr11:g.119278541G>T
cDNA c.1259G>T
Protein p.R420L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278541G>T c.1259G>T p.R420L RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278541G>T c.1259G>T p.R420L RefSeq GRCh38/hg38
NM_005188 chr11:g.119278541G>T c.1259G>T p.R420L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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