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Gene | CBL |
Variant | S253F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL S253F lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). S253F has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL S253F |
Transcript | NM_005188.4 |
gDNA | chr11:g.119274842C>T |
cDNA | c.758C>T |
Protein | p.S253F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |