D594G 基因突变 BRAF癌基因 - 癌症123

基因突变

BRAF 突变位点基因序列 BRAF D594G 这种BRAF突变显著降低了激酶活性，并通过CRAF结合导致异常的MEK途径激活。 This BRAF mutation has a markedly reduced kinase activity and leads to paradoxical MEK-pathway activation via CRAF binding.

别名

ASP594GLY,RS121913338
Allele Registry ID：CA123657
ClinVar ID：13972

突变位点

Ref. Build: GRCh37 Ensembl Version: 75

Chr.	Start	Stop	Ref. s	Var. Bases
7	140453154	140453154	T	C
Transcript
ENST00000288602.6

基因序列

NM_004333.4:c.1781A>003eG
NP_004324.2:p.Asp594Gly
NC_000007.13:g.140453154T>003eC
ENST00000288602.6:c.1781A>003eG