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Gene | CBL |
Variant | M374V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CBL M374V lies within the linker region of the Cbl protein (UniProt.org). M374V demonstrates activity comparable to wild-type Cbl in cell culture (PMID: 26676746), and therefore, is predicted to have no effect on Cbl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL M374V |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278190A>G |
cDNA | c.1120A>G |
Protein | p.M374V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278190A>G | c.1120A>G | p.M374V | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278190A>G | c.1120A>G | p.M374V | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278190A>G | c.1120A>G | p.M374V | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278190A>G | c.1120A>G | p.M374V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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