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Gene | CBL |
Variant | E894* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL E894* results in a premature truncation of the Cbl protein at amino acid 894 of 906 (UniProt.org). E894* 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 E894* |
Transcript | NM_005188.4 |
gDNA | chr11:g.119299740G>T |
cDNA | c.2680G>T |
Protein | p.E894* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119299740G>T | c.2680G>T | p.E894* | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119299740G>T | c.2680G>T | p.E894* | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119299740G>T | c.2680G>T | p.E894* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL E894* | unknown |