Gene Variant Detail

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Gene BRAF
Variant L597K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF L597K lies within the protein kinase domain of the Braf protein (UniProt.org). L597K has been identified in the scientific literature (PMID: 33560788), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF L597X BRAF L597K

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Transcript NM_004333.6
gDNA chr7:g.140753345_140753346delCTinsAA
cDNA c.1789_1790delCTinsAA
Protein p.L597K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.5 chr7:g.140753345_140753346delCTinsAA c.1789_1790delCTinsAA p.L597K RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753345_140753346delCTinsAA c.1789_1790delCTinsAA p.L597K RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753345_140753346delCTinsAA c.1789_1790delCTinsAA p.L597K RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753345_140753346delCTinsAA c.1789_1790delCTinsAA p.L597K RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140749333_140749334delTTinsAA c.1789_1790delTTinsAA p.L597K RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753345_140753346delCTinsAA c.1789_1790delCTinsAA p.L597K RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753345_140753346delCTinsAA c.1789_1790delCTinsAA p.L597K RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140749333_140749334delTTinsAA c.1789_1790delTTinsAA p.L597K RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L597K melanoma predicted - sensitive Cobimetinib + Vemurafenib Case Reports/Case Series Actionable In a clinical case study, the combination of Cotellic (cobimetinib) and Zelboraf (vemurafenib) resulted in a partial response and clinical improvement in a patient with metastatic melanoma harboring BRAF L597K (PMID: 33560788). 33560788