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。
c-kit外显子14突变位于蛋白的酪氨酸激酶域内。虽然在原发性胃肠道肿瘤中相对罕见,但在难治性疾病中更为普遍,提示伊马替尼抵抗的作用。与其他Kit外显子的突变不同,外显子14突变在黑色素瘤中似乎相对罕见。
c-KIT exon 14 mutations lie within the tyrosine kinase domain of the protein. While relatively rare in primary gastrointestinal tumors, they are notably more prevalent in refractory disease, suggesting a role in imatinib resistance. Unlike mutations in other KIT exons, exon 14 mutations seem relatively rare in melanoma.
| Chr. | Start | Stop | Ref. s | Var. Bases |
| 4 | 55595501 | 55595651 | ||
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| ENST00000288135.5 | ||||