BRAF V600E AMPLIFICATION Detail (hg38) (BRAF)

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Information

Genome

Assembly	Position
hg19	chr7:140,434,279-140,624,564 View the variant detail on this assembly version.
hg38	chr7:140,734,479-140,924,764

Summary

Links

Type	Database	ID	Link
Gene	MIM	164757	OMIM
	HGNC	1097	HGNC
	Ensembl	ENSG00000157764	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

Disease	Drug	EL	ET	ED	CS	VO	TR	Pubmed	Links
colorectal cancer	Dabrafenib,Panitumumab	C	Predictive	Supports	Resistance	Somatic	3	25673644	Detail
melanoma	Dabrafenib,Trametinib	B	Predictive	Supports	Resistance	Somatic	4	25452114	Detail
colorectal cancer	Selumetinib	E	Predictive	Supports	Resistance	Somatic	4	21098728	Detail

DisGeNET

[No Data.]

Annotation

Descrption	Source	Links
Paired pre-treatment and post-progression tumor biopsies from BRAF-mutant CRC patients treated with ...	CIViC Evidence	Detail
In a retrospective study, authors analyzed BRAF V600 mutated melanoma metastases derived from 10 pat...	CIViC Evidence	Detail
COLO201 and COLO206F cells harboring BRAF V600E mutations were cloned to be MEK inhibitor (AZD6244 [...	CIViC Evidence	Detail

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: BRAF
Genome: hg38
Position: chr7:140,734,479-140,924,764
Variant Type: cnv
Variant (CIViC) (CIViC Variant): V600E AMPLIFICATION
Transcript 1 (CIViC Variant): ENST00000288602.6
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/14
Summary (CIViC Variant): Amplification of BRAF V600E has been shown to confer resistance to MEK inhibitors. For more information on the V600 locus, see the V600E entry.
Variant (CIViC) (CIViC Variant): AMPLIFICATION
Variant URL (CIViC Variant): https://civic.genome.wustl.edu/links/variants/1269

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