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Gene | CBL |
Variant | V430M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CBL V430M lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). V430M demonstrates activity comparable to wild-type Cbl in culture (PMID: 26676746), and therefore, is predicted to have no effect on Cbl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL V430M |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278570G>A |
cDNA | c.1288G>A |
Protein | p.V430M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |