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 | K601del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF K601del results in the deletion of an amino acid in the protein kinase domain of the Braf protein at amino acid 601 (UniProt.org). K601del has been identified in sequencing studies (PMID: 19152441), 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 K601del |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753332_140753334delTTT |
cDNA | c.1801_1803delAAA |
Protein | p.K601del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001354609.2 | chr7:g.140753332_140753334delTTT | c.1801_1803delAAA | p.K601del | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753332_140753334delTTT | c.1801_1803delAAA | p.K601del | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753332_140753334delTTT | c.1801_1803delAAA | p.K601del | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753332_140753334delTTT | c.1801_1803delAAA | p.K601del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|