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。
- 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
KIT 基因突变 E554D
基因突变位点
Ref. Build: GRCh37 Ensembl Version: 75
| Chr. | Start | Stop | Ref. s | Var. Bases |
| 4 | 55593596 | 55593596 | A | C |
| Transcript | ||||
| ENST00000288135.5 | ||||
基因序列
ENST00000288135.5:c.1662A>003eC
NC_000004.11:g.55593596A>003eC
NM_000222.2:c.1662A>003eC
NP_000213.1:p.Glu554Asp
NC_000004.11:g.55593596A>003eC
NM_000222.2:c.1662A>003eC
NP_000213.1:p.Glu554Asp