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Gene | CBL |
Variant | Y371H |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL Y371H lies within the linker region of the Cbl protein (PMID: 20622007). Y371H results in a loss of Cbl ubiquitin ligase activity, leading to activation of FLT3, AKT, and STAT5, and transformation of cultured cells when co-expressed with FLT3 or KIT (PMID: 23696637, PMID: 20622007). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Y371H CBL mutant CBL inact mut CBL Y371H |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278181T>C |
cDNA | c.1111T>C |
Protein | p.Y371H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119278181T>C | c.1111T>C | p.Y371H | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278181T>C | c.1111T>C | p.Y371H | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278181T>C | c.1111T>C | p.Y371H | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278181T>C | c.1111T>C | p.Y371H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL Y371H | loss of function | FLT3 Inhibitor |
CBL Y371H FLT3 wild-type | ||
CBL Y371H FLT3 pos |