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Gene | FBXW7 |
Variant | R658* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 R658* results in a premature truncation of the Fbxw7 protein at amino acid 658 of 707 (UniProt.org). R658* is associated with decreased Fbxw7 protein level in cell culture, but does not result in increased tumorigenesis compared to wild-type Fbxw7 in mouse models (PMID: 24838835), and therefore its effect on Fbxw7 protein function is unknown. |
Associated Drug Resistance |
Transcript | NM_033632.3 |
gDNA | chr4:g.152323033G>A |
cDNA | c.1972C>T |
Protein | p.R658* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532083 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152323033G>A | c.1972C>T | p.R658* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FBXW7 R658* | unknown |