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CBL P780Nfs*7 - Gene Variant Detail

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Gene CBL
Variant P780Nfs*7
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CBL P780Nfs*7 indicates a shift in the reading frame starting at amino acid 780 and terminating 7 residues downstream causing a premature truncation of the 906 amino acid Cbl protein (UniProt.org). P780Nfs*7 has not been characterized however, due to the effects of other truncation mutations downstream of P780 (PMID: 23744067), is predicted to lead to a loss of Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL inact mut CBL P780Nfs*7

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Transcript NM_005188.4
gDNA chr11:g.(119298444_119298467)
cDNA c.(2338_2361)
Protein p.P780Nfs*7
Source Database RefSeq
Genome Build GRCh38/hg38

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