ERBB2 S310F/Y

erbb2 s310f/y是第一个功能分类的erbbb2变体(Greulich等人2012年)。这种突变在体外实验中被证明是一种激活突变(通过高磷酸化)。在同一篇论文中,该突变(连同其他erbbb2激活突变)在小鼠bA/f3细胞中被证明对erb2抑制剂(阿法替尼、拉帕替尼和奈拉汀尼)敏感。最近的证据可能表明,her2激活突变赋予了对大量酪氨酸激酶抑制剂的敏感性,这是当前临床试验和研究的主题。
ERBB2 S310F/Y was one of the first ERBB2 variants to be functionally classified (Greulich et al. 2012). This mutation was shown to be an activating mutation (through hyperphosphorylation) in an in vitro assay. In the same paper, this mutation (along with other ERBB2 activating mutations) in murine Ba/F3 cells have been shown to be sensitive to the ERBB2 inhibitors (afatinib, lapatinib and neratinib). More recent evidence may show that HER2 acitivating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.

别名

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
173786820837868208
Transcript
ENST00000269571.5

基因序列

ENST00000269571.5:c.929C>003eT
NC_000017.10:g.37868208C>003eT