KIT V654A

Kit V654A是一个外显子13突变,位于蛋白质的酪氨酸激酶1域内。体外研究表明它是一种激活突变。这种突变与黑色素瘤患者的伊马替尼抵抗有关。然而,第二代tki,如舒尼替尼和中蛇毒苷(pkc 412),在实现肿瘤反应方面取得了成功。
KIT V654A is an exon 13 mutation that lies within the tyrosine kinase 1 domain of the protein. It has been shown to be an activating mutation by in vitro studies. This mutation is associated with imatinib resistance in melanoma patients. However, second generation TKI's such as sunitinib and midostaurin (PKC 412) have seen success in acheiving tumor response.

别名

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
45559425855594258TC
Transcript
ENST00000288135.5

基因序列

NC_000004.11:g.55594258T>003eC
NM_000222.2:c.1961T>003eC
NP_000213.1:p.Val654Ala
ENST00000288135.5:c.1961T>003eC