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Gene | CBL |
Variant | G375P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CBL G375P lies within the linker region of the Cbl protein (UniProt.org). G375P is predicted to confer a loss of function to the Cbl protein, as demonstrated by reduced Cbl activity (PMID: 26676746). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL G375P CBL mutant CBL inact mut CBL G375P |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278193_119278194delGGinsCC |
cDNA | c.1123_1124delGGinsCC |
Protein | p.G375P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278193_119278194delGGinsCC | c.1123_1124delGGinsCC | p.G375P | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278193_119278194delGGinsCC | c.1123_1124delGGinsCC | p.G375P | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278193_119278194delGGinsCC | c.1123_1124delGGinsCC | p.G375P | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278193_119278194delGGinsCC | c.1123_1124delGGinsCC | p.G375P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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