Gene Variant Detail

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Gene BRAF
Variant K483M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF K483M (also reported as K482M) lies within an ATP binding site in the protein kinase domain of the Braf protein (UniProt.org). K483M results in a loss of Braf kinase activity, however, has been demonstrated to both activate MEK through CRAF (PMID: 16508002, PMID: 23533272), and lacks the ability to activate ERK and CRAF in cell culture and in Xenopus (PMID: 15035987, PMID: 30828992), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF K483M

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Transcript NM_004333.6
gDNA chr7:g.140778059_140778060delAAinsTG
cDNA c.1448_1449delAAinsTG
Protein p.K483M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140778059_140778060delAAinsTG c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778059_140778060delTTinsCA c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778059_140778060delAAinsTG c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38
NM_004333 chr7:g.140778059_140778060delTTinsCA c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778059_140778060delAAinsTG c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778059_140778060delAAinsTG c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778059_140778060delAAinsTG c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778059_140778060delAAinsTG c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778059_140778060delAAinsTG c.1448_1449delAAinsTG p.K483M RefSeq GRCh38/hg38

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