BRAF K483M

K483M变异体是BRAF催化位点的一种激酶功能缺失变异体。在评估其他BRAF变体时,这种工程化变体通常用作控制。
The K483M variant is a kinase dead loss-of-function variant in the catalytic site of BRAF. This engineered variant is often used as a control when evaluating other BRAF variants.

别名

LYS483MET
Allele Registry ID:_:CA
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
7140477859140477860TTCA
Transcript
ENST00000288602.6

基因序列

NC_000007.13:g.140477859_140477860delinsCA
ENST00000288602.6:c.1448_1449delinsTG