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Gene | CBL |
Variant | P417A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL P417A lies within the RING-finger domain of the Cbl protein (PMID: 20501843). P417A results in decreased Cbl ubiquitin ligase activity, increased cell survival, and is transforming in cell culture (PMID: 19387008). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL P417A CBL mutant CBL inact mut CBL P417A |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278531C>G |
cDNA | c.1249C>G |
Protein | p.P417A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119278531C>G | c.1249C>G | p.P417A | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278531C>G | c.1249C>G | p.P417A | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278531C>G | c.1249C>G | p.P417A | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278531C>G | c.1249C>G | p.P417A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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