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 | H608R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF H608R lies within the protein kinase domain of the Braf protein (UniProt.org). H608R has been identified in sequencing studies (PMID: 15331929, PMID: 37465126), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF H608R |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753312T>C |
cDNA | c.1823A>G |
Protein | p.H608R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017012558 | chr7:g.140754225T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753312T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_004333 | chr7:g.140753312T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753312T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140754225T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
XM_017012558.1 | chr7:g.140754225T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
XM_017012559.1 | chr7:g.140754225T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_001374258.1 | chr7:g.140754225T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140754225T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140754225T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753312T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
XM_017012559 | chr7:g.140754225T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753312T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753312T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753312T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753312T>C | c.1823A>G | p.H608R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|