Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | BRAF |
Variant | G596X |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF G596X indicates any BRAF missense mutation that results in replacement of the glycine (G) at amino acid 596 by a different amino acid. |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF G596X |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753347_140753349 |
cDNA | c.1786_1788 |
Protein | p.G596 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001378474.1 | chr7:g.140753347_140753349 | c.1786_1788 | p.G596 | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753347_140753349 | c.1786_1788 | p.G596 | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140753356_140753358 | c.1786_1788 | p.G596 | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753347_140753349 | c.1786_1788 | p.G596 | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753347_140753349 | c.1786_1788 | p.G596 | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753347_140753349 | c.1786_1788 | p.G596 | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753347_140753349 | c.1786_1788 | p.G596 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|