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Gene | CBL |
Variant | A757T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL A757T lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A757T has been identified in sequencing studies (PMID: 30337359, PMID: 29866652, PMID: 24728327), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL A757T |
Transcript | NM_005188.4 |
gDNA | chr11:g.119298375G>A |
cDNA | c.2269G>A |
Protein | p.A757T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.4 | chr11:g.119298375G>A | c.2269G>A | p.A757T | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119298375G>A | c.2269G>A | p.A757T | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119298375G>A | c.2269G>A | p.A757T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL A757T | unknown |