ALK R1275Q

ALK R1275Q是神经母细胞瘤、非小细胞肺癌(NSCLC)以及其他癌症类型的复发性突变。这种突变的神经母细胞瘤细胞对ALK抑制剂TAE684具有敏感性。这和格尔达那霉素衍生物17-dmag已被证明在NSCLC细胞系中有效。
ALK R1275Q has been observed as a recurrent mutation in neuroblastoma, non-small cell lung cancer (NSCLC), as well as other cancer types. Neuroblastoma cells with this mutation have shown sensitivity to the ALK-inhibitor TAE684. This and the geldanamycin deriviative 17-DMAG have been shown to be effective in NSCLC cell lines.

别名

ARG1275GLN,RS113994087
Allele Registry ID:CA341482
ClinVar ID:18083

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
22943266429432664CT
Transcript
ENST00000389048.3

基因序列

NM_004304.4:c.3824G>003eA
NP_004295.2:p.Arg1275Gln
NC_000002.11:g.29432664C>003eT
ENST00000389048.3:c.3824G>003eA