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 | S147N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | BRAF S147N does not lie within any known functional domains of the Braf protein (UniProt.org). S147N has been identified in the scientific literature (PMID: 34759319, PMID: 32234759), 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 S147N |
Transcript | NM_004333.6 |
gDNA | chr7:g.140834673C>T |
cDNA | c.440G>A |
Protein | p.S147N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001374258.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
NM_004333.6 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
XM_047420768.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
NM_001378474.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
NM_001354609.2 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
NM_001374244.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
NM_001378468.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
NM_001378467.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
XM_047420767.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
XM_047420769.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
NM_001378471.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
NM_001378469.1 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
XM_017012559.2 | chr7:g.140834673C>T | c.440G>A | p.S147N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
BRAF S147N | unknown |