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Gene | CBL |
Variant | H94Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL H94Y lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). H94Y in combination with S80N results in ubiquitin activity similar to wild-type Cbl (PMID: 26676746), altered cell cycle, and increased cell viability and motility in cell culture (PMID: 20126411), however, has not been individually characterized and therefore, its effect on Cbl protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL H94Y |
Transcript | NM_005188.4 |
gDNA | chr11:g.119232532C>T |
cDNA | c.280C>T |
Protein | p.H94Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119232532C>T | c.280C>T | p.H94Y | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119232532C>T | c.280C>T | p.H94Y | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119232532C>T | c.280C>T | p.H94Y | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119232532C>T | c.280C>T | p.H94Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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