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Gene | CBL |
Variant | Q249E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL Q249E lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). The functional effect of Q249E is conflicting as it results in increased ubiquitination of Egfr in cultured cells in one study (PMID: 26676746), but ubiquitinates Egfr similar to wild-type protein in another study (PMID: 20126411), and leads to increased viability (PMID: 20126411) and Met expression in culture (PMID: 28835699), and therefore, its effect on Cbl protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL Q249E |
Transcript | NM_005188.4 |
gDNA | chr11:g.119274022C>G |
cDNA | c.745C>G |
Protein | p.Q249E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119274022C>G | c.745C>G | p.Q249E | RefSeq | GRCh38/hg38 |
XM_017018511 | chr11:g.119278295C>G | c.745C>G | p.Q249E | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119274022C>G | c.745C>G | p.Q249E | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119274022C>G | c.745C>G | p.Q249E | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119274022C>G | c.745C>G | p.Q249E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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