Gene Variant Detail

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Gene CBL
Variant Q367_E373delinsRLK
Impact List indel
Protein Effect unknown
Gene Variant Descriptions CBL Q367_E373delinsRLK results in a deletion of seven amino acids in the linker region of the Cbl protein from amino acids 367 to 373, combined with the insertion of an arginine (R), a leucine (L), and a lysine (K) at the same site (UniProt.org). Q367_E373delinsRLK has been identified in the scientific literature (PMID: 31088841), 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 exon8 CBL Q367_E373delinsRLK

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Transcript NM_005188.4
gDNA chr11:g.119278169_119278189delinsAGGCTTAAG
cDNA c.1099_1119delinsAGGCTTAAG
Protein p.Q367_E373delinsRLK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278169_119278189delinsAGGCTTAAG c.1099_1119delinsAGGCTTAAG p.Q367_E373delinsRLK RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278169_119278189delinsAGGCTTAAG c.1099_1119delinsAGGCTTAAG p.Q367_E373delinsRLK RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References