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Gene | CBL |
Variant | W802* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CBL W802* results in a premature truncation of the Cbl protein at amino acid 802 of 906 (UniProt.org). W802* has not been characterized however, due to the effects of other truncation mutations downstream of W802 (PMID: 23744067), is predicted to lead to a loss of Cbl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL inact mut CBL W802* |
Transcript | NM_005188.4 |
gDNA | chr11:g.119298511G>A |
cDNA | c.2405G>A |
Protein | p.W802* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.4 | chr11:g.119298511G>A | c.2405G>A | p.W802* | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119298511G>A | c.2405G>A | p.W802* | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119298511G>A | c.2405G>A | p.W802* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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