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Gene BRAF
Variant R188L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF R188L lies within the RBD domain of the Braf protein (UniProt.org). R188L is predicted to lead to a loss of Braf protein function as indicated by failure to restore transendothelial electrical resistance and Erk and cofilin phosphorylation in BRAF-null cells in culture (PMID: 30828992), and results in loss of Raf dimerization (PMID: 20141835, PMID: 22926515) and Ras interaction (PMID: 36347258), leading to reduced or loss of transforming activity when combined with class 1/2 or class 3 Braf mutations in cultured cells (PMID: 36347258).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF R188L

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Transcript NM_004333.6
gDNA chr7:g.140808937_140808938delAGinsCT
cDNA c.562_563delAGinsCT
Protein p.R188L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
XM_047420770.1 chr7:g.140783058_140783059delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140808937_140808938delAGinsCT c.562_563delAGinsCT p.R188L RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References