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Gene | BRAF |
Variant | T529N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF T529N lies within the protein kinase domain of the Braf protein (UniProt.org). T529N demonstrates RAS-induced kinase activity similar to wild-type Braf in culture (PMID: 20141835), and confers resistance to Raf inhibitors (PMID: 20538618, PMID: 20807807, PMID: 20141835), but has not been fully biochemically characterized and therefore, its effect on Braf protein function is unknown. |
Associated Drug Resistance | Y |
Category Variants Paths |
BRAF mutant BRAF T529N |
Transcript | NM_004333.6 |
gDNA | chr7:g.140777020G>T |
cDNA | c.1586C>A |
Protein | p.T529N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047420769.1 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140777020G>T | c.1586C>A | p.T529N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF T529N BRAF V600E | Advanced Solid Tumor | resistant | RAF265 | Preclinical | Actionable | In a preclinical study, transformed cells expressing BRAF V600E and the gatepkeeper mutation BRAF T529N were insensitive to RAF265 in culture (PMID: 20538618). | 20538618 |
BRAF T529N BRAF V600E | Advanced Solid Tumor | resistant | SB590885 | Preclinical | Actionable | In a preclinical study, transformed cells expressing BRAF V600E and the gatepkeeper mutation BRAF T529N were insensitive to SB590885 in culture (PMID: 20538618). | 20538618 |
BRAF T529N BRAF V600E | Advanced Solid Tumor | resistant | PLX4720 | Preclinical | Actionable | In a preclinical study, transformed cells expressing BRAF V600E and the gatepkeeper mutation BRAF T529N were insensitive to PLX4720 in culture (PMID: 20538618). | 20538618 |
BRAF T529N BRAF V600E | Advanced Solid Tumor | conflicting | Sorafenib | Preclinical | Actionable | In a preclinical study, transformed cells expressing BRAF V600E and the gatepkeeper mutation BRAF T529N were insensitive to Nexavar (sorafenib)-mediated inhibition of Erk phosphorylation but were equally as sensitive to Nexavar (sorafenib)-mediated growth inhibition as transformed cells expressing BRAF V600E in culture (PMID: 20538618). | 20538618 |
BRAF T529N BRAF V600E | Advanced Solid Tumor | sensitive | CI-1040 | Preclinical | Actionable | In a preclinical study, CI-1040 (PD184352) inhibited Erk phosphorylation and growth of transformed cells expressing BRAF V600E and the gatekeeper mutation BRAF T529N in culture (PMID: 20538618). | 20538618 |
BRAF T529N CTNNB1 mut | hepatocellular carcinoma | predicted - sensitive | WNTinib | Preclinical - Cell culture | Actionable | In a preclinical study, WNTinib inhibited viability in a hepatocellular carcinoma cell line harboring a deletion of CTNNB1 exons and expressing BRAF T529N in culture (PMID: 37537299). | 37537299 |