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CBL R420P - Gene Variant Detail

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Gene CBL
Variant R420P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL R420P lies within the RING-finger domain of the Cbl protein (PMID: 20501843). R420P leads to destabilization of Cbl-E2 binding in computational models (PMID: 26676746), but has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL R420P

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Transcript NM_005188.4
gDNA chr11:g.119278541G>C
cDNA c.1259G>C
Protein p.R420P
Source Database RefSeq
Genome Build GRCh38/hg38

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  • 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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