KIT基因编码的蛋白是干细胞因子受体SCFR,也被称为原癌基因c-kit或酪氨酸蛋白激酶kit或CD117,是一种受体酪氨酸激酶,这个基因突变与胃肠道间质瘤,肥大细胞病,急性髓性白血病有关。
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.
| Chr. | Start | Stop | Ref. s | Var. Bases |
| 4 | 55594258 | 55594258 | T | C |
| Transcript | ||||
| ENST00000288135.5 | ||||