KIT L576P

工具包L576P是一个外显子11突变,位于Juxtamembrane域。它是黑色素瘤中最常见的KIT突变之一,体外和体内研究均显示对伊马替尼敏感。
KIT L576P is an exon 11 mutation that lies within the juxtamembrane domain. It is one of the most recurrent KIT mutations in melanoma, and both in vitro and in vivo studies have shown sensitivity to imatinib.

别名

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
45559366155593661TC
Transcript
ENST00000288135.5

基因序列

NM_000222.2:c.1727T>003eC
NP_000213.1:p.Leu576Pro
ENST00000288135.5:c.1727T>003eC
NC_000004.11:g.55593661T>003eC