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@jax.org
Gene | FBXW7 |
Variant | R278* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 R278* results in a premature truncation of the Fbxw7 protein at amino acid 278 of 707 (UniProt.org). R278* has not been characterized however, due to the effects of other truncation mutations downstream of R278 (PMID: 30510140, PMID: 24838835), is predicted to lead to a loss of Fbxw7 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R278* |
Transcript | NM_033632.3 |
gDNA | chr4:g.152337831G>A |
cDNA | c.832C>T |
Protein | p.R278* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415900.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152337831G>A | c.832C>T | p.R278* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FBXW7 R278* | loss of function - predicted | mTORC1 Inhibitor |