Gene Variant Detail

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Gene BRAF
Variant Q257R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF Q257R lies within the phorbol-ester/DAG-type zinc finger domain of the BRAF protein (UniProt.org). Q257R confers a gain of function to the Braf protein as demonstrated by increased kinase activity and activation of downstream Mek signaling in cell cuture, and activation of ELK in reporter assays (PMID: 16474404, PMID: 16439621).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF Q257R

BRAF mutant BRAF Q257X BRAF Q257R

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Transcript NM_004333.6
gDNA chr7:g.140801502T>C
cDNA c.770A>G
Protein p.Q257R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_017012559 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_005250045 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_017012558 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_004333 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140801502T>C c.770A>G p.Q257R RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140801502T>C c.770A>G p.Q257R 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