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Gene | CBL |
Variant | L493F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL L493F lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). L493F is predicted to result in decreased Cbl stability by protein modeling (PMID: 33550024), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL L493F |
Transcript | NM_005188.4 |
gDNA | chr11:g.119285014C>T |
cDNA | c.1477C>T |
Protein | p.L493F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.4 | chr11:g.119285014C>T | c.1477C>T | p.L493F | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119285014C>T | c.1477C>T | p.L493F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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