Gene Variant Detail

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Gene BRAF
Variant S637*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRAF S637* results in a premature truncation the Braf protein at amino acid 637 of 766 (UniProt.org). S637* has not been biochemically characterized, however, demonstrates an inability to induce cell viability and proliferation in cell culture (PMID: 29533785), 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 S637*

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Transcript NM_004333.6
gDNA chr7:g.140749369G>T
cDNA c.1910C>A
Protein p.S637*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378474.1 chr7:g.140749369G>T c.1910C>A p.S637* RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140749369G>T c.1910C>A p.S637* RefSeq GRCh38/hg38
XM_005250045 chr7:g.140749369G>T c.1910C>A p.S637* RefSeq GRCh38/hg38
NM_004333 chr7:g.140749369G>T c.1910C>A p.S637* RefSeq GRCh38/hg38
NM_001378467.1 chr7:g.140749377_140749379delAGCinsTGA c.1909_1911delAGCinsTGA p.S637* RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140749369G>T c.1910C>A p.S637* RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140749369G>T c.1910C>A p.S637* RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140749369G>T c.1910C>A p.S637* RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140749369G>T c.1910C>A p.S637* RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries