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基因

癌症分类

基因

KIT

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。

别名

C-Kit,CD117,PBT,SCFR

基因id

Chromosome：4　Start:　55524085　End:　55606881　Strand:　1

药物

突变与药物

EXON 11 MUTATION V560G S501_A502INSAY D816V V560D V559D L576P EXON 9 MUTATION K550_K558del Y553_K558DEL W557_E561DEL V560DEL N822K K558_V559del DEL 554-558 P551_E554delPMYE W557G D816H V654A K642E V559DEL Q694K S692L K558NP EXPRESSION MUTATION D820Y V559G V559_V560DEL K550_W557del T661I Y570_L576DEL V569_L576DEL M541L A502_Y503insAY W557R V555_P573DEL V555_Q556DEL Y553D M552_W557DEL P551L V559A W557_V559insC Y553_W557DELYEVQW V560_L576DEL W557T AMPLIFICATION D820A D820G K558R Y503_F504insAY E554D D816Y P577L D816G K558Q EXON 14 MUTATION WILDTYPE INTERNAL DUPLICATION C809G Y823D Q575L RS3733542 N822K K550_K559DEL F506_F508DUP K484_G487DEL EXON 8 MUTATION K642R A829P N822H V559 T574A Q556_I571DEL V555_I571DEL K550_W557delKPMYEVQW T417_D419DELTYDINSI D579_H580insIDPTQLPYD D816E S628N 3' UTR MUTATION W557_K558DELWK D579DEL T670I T417_D419delinsY EXON 13 MUTATION V555_V559DEL
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