Gene Variant Detail

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Gene BRAF
Variant K601N
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions BRAF K601N lies within the protein kinase domain of the Braf protein (UniProt.org). K601N confers a gain of function on Braf, as indicated by increased phosphorylation of MEK and ERK in cell in culture (PMID: 24434212) and induction of cell proliferation and cell viability in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF K601N

BRAF mutant BRAF K601X BRAF K601N

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Transcript NM_004333.6
gDNA chr7:g.140753332T>G
cDNA c.1803A>C
Protein p.K601N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753332T>G c.1803A>C p.K601N RefSeq GRCh38/hg38
NM_004333 chr7:g.140753332T>G c.1803A>C p.K601N RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753332T>G c.1803A>C p.K601N RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753332T>G c.1803A>C p.K601N RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753332T>G c.1803A>C p.K601N RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753332T>G c.1803A>C p.K601N RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753332T>G c.1803A>C p.K601N RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753332T>G c.1803A>C p.K601N RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF K601N lung non-small cell carcinoma no benefit Vemurafenib Case Reports/Case Series Actionable In a Phase II trial, Zelboraf (vemurafenib) treatment did not result in response in the cohort of 15 non-small cell lung cancer patients with non-V600 BRAF mutations, which included 2 patients harboring BRAF K601N, and enrollment in this cohort was discontinued (PMID: 31959346; NCT02304809). 31959346
BRAF K601N Advanced Solid Tumor resistant Vemurafenib Preclinical - Cell culture Actionable In a preclinical study, Zelboraf (vemurafenib) did not inhibit MEK and ERK activation in transformed cells over expressing the constitutively dimerized BRAF K601N (PMID: 26343582). 26343582
BRAF K601N chronic lymphocytic leukemia sensitive PLX8394 Preclinical - Cell culture Actionable In a preclinical study, PLX8394 treatment inhibited Erk signaling and reduced proliferation of chronic lymphocytic leukemia cells harboring BRAF K601N in culture (PMID: 30559419). 30559419
BRAF K601N hematologic cancer sensitive LY3009120 Preclinical - Cell culture Actionable In a preclinical study, a hematological tumor cell line harboring BRAF K601N demonstrated sensitivity to LY3009120 in culture (PMID: 26732095). 26732095
BRAF K601N lung non-small cell carcinoma predicted - sensitive LTT462 + LXH 254 Case Reports/Case Series Actionable In a Phase Ib trial, LTT462 and LXH 254 combination therapy was well tolerated and resulted in an unconfirmed partial response (PR) in 4% (2/49) and stable disease (SD) in 33% (16/49) of patients with advanced or metastatic KRAS- or BRAF-mutant non-small cell lung cancer, with 1 patient harboring BRAF K601N achieving an unconfirmed PR (Ann Oncol 31 (suppl 4):S881-S882; NCT02974725). detail...