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Gene | CBL |
Variant | L380P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL L380P lies within the linker region of the Cbl protein (UniProt.org). L380P has been identified in the scientific literature (PMID: 19387008, PMID: 36653885, PMID: 31107544), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL L380P |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278209T>C |
cDNA | c.1139T>C |
Protein | p.L380P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.4 | chr11:g.119278209T>C | c.1139T>C | p.L380P | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278209T>C | c.1139T>C | p.L380P | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278209T>C | c.1139T>C | p.L380P | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278209T>C | c.1139T>C | p.L380P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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