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Gene | CBL |
Variant | K477M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL K477M lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). K477M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL K477M |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278712A>T |
cDNA | c.1430A>T |
Protein | p.K477M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278712A>T | c.1430A>T | p.K477M | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278712A>T | c.1430A>T | p.K477M | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278712A>T | c.1430A>T | p.K477M | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278712A>T | c.1430A>T | p.K477M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL K477M | unknown |