BRAF V600delinsYM
Gene Variant Detail

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Gene BRAF
Variant V600delinsYM
Impact List indel
Protein Effect gain of function
Gene Variant Descriptions BRAF V600delinsYM results in a deletion of valine (V) at amino acid 600 within the protein kinase domain of the Braf protein, combined with the insertion of a tyrosine (Y) and a methionine (M) at the same site (UniProt.org). V600delinsYM results in increased Braf kinase activity, increased downstream signaling, and the ability to transform cells in culture (PMID: 22752848).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF V600delinsYM

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Transcript NM_004333.6
gDNA chr7:g.140753335_140753337delinsCATATA
cDNA c.1798_1800delinsTATATG
Protein p.V600_600delinsYM
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_004333 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753335_140753337delinsCATATA c.1798_1800delinsTATATG p.V600_600delinsYM RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References