Gene Variant Detail

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Gene BRAF
Variant L485W
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF L485W lies within the protein kinase domain of the Braf protein (UniProt.org). L485W results in increased transformation ability compared to wild-type Braf in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF L485X BRAF L485W

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Transcript NM_004333.6
gDNA chr7:g.140778054A>C
cDNA c.1454T>G
Protein p.L485W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776996A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776996A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
NM_004333 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778054A>C c.1454T>G p.L485W RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L485W gallbladder cancer sensitive Ulixertinib Case Reports/Case Series Actionable In a Phase I trial, treatment with Ulixertinib (BVD-523) resulted in a complete response lasting almost 1 year in a gallbladder cancer patient harboring BRAF L485W (PMID: 29247016, PMID: 29247021; (PMID: 29247021; NCT01781429).). 29247021 29247016