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Gene | CBL |
Variant | S80N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL S80N lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). S80N in combination with H94Y demonstrates ubiquitin ligase activity similar to wild-type Cbl towards Egfr (PMID: 26676746) and increased cell viability and motility in cell culture (PMID: 20126411), but has not been individually characterized and therefore, its effect on Cbl protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL S80N |
Transcript | NM_005188.4 |
gDNA | chr11:g.119232491G>A |
cDNA | c.239G>A |
Protein | p.S80N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119232491G>A | c.239G>A | p.S80N | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119232491G>A | c.239G>A | p.S80N | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119232491G>A | c.239G>A | p.S80N | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119232491G>A | c.239G>A | p.S80N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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