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Gene | CBL |
Variant | P546L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL P546L lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P546L has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL P546L |
Transcript | NM_005188.4 |
gDNA | chr11:g.119285262C>T |
cDNA | c.1637C>T |
Protein | p.P546L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119285262C>T | c.1637C>T | p.P546L | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119285262C>T | c.1637C>T | p.P546L | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119285262C>T | c.1637C>T | p.P546L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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