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Gene | FBXW7 |
Variant | R473fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 R473fs results in a change in the amino acid sequence of the Fbxw7 protein beginning at aa 473 of 707, likely resulting in a premature truncation of the functional protein (UniProt.org). R473fs has not been characterized however, due to the effects of other truncation mutations downstream of R473 (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 R473fs |
Transcript | NM_033632.3 |
gDNA | chr4:g.(152328209_152328210) |
cDNA | c.(1417_1416) |
Protein | p.R473fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |