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 | S605N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF S605N lies within the protein kinase domain of the Braf protein (UniProt.org). S605N has been identified in sequencing studies (PMID: 29176861, PMID: 28628916, PMID: 15331929), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
BRAF mutant BRAF S605N |
Transcript | NM_004333.6 |
gDNA | chr7:g.140753321C>T |
cDNA | c.1814G>A |
Protein | p.S605N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004333 | chr7:g.140753321C>T | c.1814G>A | p.S605N | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140753321C>T | c.1814G>A | p.S605N | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140753321C>T | c.1814G>A | p.S605N | RefSeq | GRCh38/hg38 |
XM_005250045 | chr7:g.140753321C>T | c.1814G>A | p.S605N | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140753321C>T | c.1814G>A | p.S605N | RefSeq | GRCh38/hg38 |
NM_001378472.1 | chr7:g.140749308_140749310delTCAinsAAC | c.1813_1815delTCAinsAAC | p.S605N | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140753330_140753331delTCinsAA | c.1813_1814delTCinsAA | p.S605N | RefSeq | GRCh38/hg38 |
NM_004333.5 | chr7:g.140753321C>T | c.1814G>A | p.S605N | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140753321C>T | c.1814G>A | p.S605N | RefSeq | GRCh38/hg38 |
NM_001378473.1 | chr7:g.140749308_140749310delTCAinsAAC | c.1813_1815delTCAinsAAC | p.S605N | RefSeq | GRCh38/hg38 |
NM_001354609.1 | chr7:g.140753321C>T | c.1814G>A | p.S605N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF S605N | unknown |