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Gene | CBL |
Variant | Q365_E366insSK |
Impact List | insertion |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL Q365_E366insSK results in the insertion of two amino acids in the linker region of the Cbl protein between amino acids 365 and 366 (UniProt.org). Q365_E366insSK results in a loss of E3-ligase activity, leading to activation of FLT3, and is transforming when expressed with FLT3 or KIT (PMID: 20622007). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL inact mut CBL Q365_E366insSK |
Transcript | NM_005188.4 |
gDNA | chr11:g.119277844_119277845insAGCAAG |
cDNA | c.1095_1095+1insAGCAAG |
Protein | p.Q365_E366insSK |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011543057 | chr11:g.119277844_119277845insAGCAAG | c.1095_1095+1insAGCAAG | p.Q365_E366insSK | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119277844_119277845insAGCAAG | c.1095_1095+1insAGCAAG | p.Q365_E366insSK | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119277844_119277845insAGCAAG | c.1095_1095+1insAGCAAG | p.Q365_E366insSK | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119277844_119277845insAGCAAG | c.1095_1095+1insAGCAAG | p.Q365_E366insSK | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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