Gene Variant Detail

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Gene BRAF
Variant H568D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF H568D lies within the protein kinase domain of the Braf protein (UniProt.org). H568D results in a loss of MEK phosphorylation in cell culture similar to Braf kinase-dead variants (PMID: 29666306), and therefore, is predicted to lead to a loss of Braf protein function.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF inact mut BRAF H568D

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Transcript NM_004333.6
gDNA chr7:g.140754226G>C
cDNA c.1702C>G
Protein p.H568D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140754226G>C c.1702C>G p.H568D RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140754226G>C c.1702C>G p.H568D RefSeq GRCh38/hg38
XM_005250045 chr7:g.140754226G>C c.1702C>G p.H568D RefSeq GRCh38/hg38
NM_004333 chr7:g.140754226G>C c.1702C>G p.H568D RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140754226G>C c.1702C>G p.H568D RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140754226G>C c.1702C>G p.H568D RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140754226G>C c.1702C>G p.H568D RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140754226G>C c.1702C>G p.H568D RefSeq GRCh38/hg38

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