Gene Variant Detail

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Gene BRAF
Variant L485Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF L485Y lies within the protein kinase domain of the Braf protein (UniProt.org). L485Y has been demonstrated to confer resistance to Raf inhibition in cell culture (PMID: 19276360), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF L485X BRAF L485Y

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Transcript NM_004333.6
gDNA chr7:g.140778053_140778054delTGinsAT
cDNA c.1454_1455delTGinsAT
Protein p.L485Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_004333 chr7:g.140778053_140778054delCAinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776995_140776996delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778053_140778054delCAinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776995_140776996delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38

Filtering

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

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF L485Y lung non-small cell carcinoma resistant GDC0879 Preclinical - Cell culture Actionable In a preclinical study, non-small cell lung cancer cells harboring BRAF L485Y were resistant to GDC0879 induced growth inhibition in culture (PMID: 19276360). 19276360