Gene Variant Detail

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Gene BRAF
Variant E275K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF E275K lies within the phorbol-ester/DAG-type zinc finger domain of the Braf protein (UniProt.org). E275K results in decreased phosphorylation of Mek and Erk in one study (PMID: 19206169), but increased phosphatidylserine binding, moderately increased Mek phosphorylation, weak transforming activity in culture, and altered zebrafish embryo development in another study (PMID: 36347258), and demonstrates cell proliferation and viability similar to wild-type Braf in culture (PMID: 29533785), and therefore, its effect on Braf protein function is unknown.
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF E275K

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Transcript NM_004333.6
gDNA chr7:g.140801449C>T
cDNA c.823G>A
Protein p.E275K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_004333 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_017012558.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_005250045 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_017012559.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_047420768.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_001374258.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_001378469.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_017012559.2 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_047420767.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_001378471.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_001374244.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_017012559 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
XM_017012558 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_001378470.1 chr7:g.140800417C>T c.823G>A p.E275K RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140801449C>T c.823G>A p.E275K RefSeq GRCh38/hg38

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