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Gene | FBXW7 |
Variant | R479G |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 R479G lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). R479G has not been characterized however, other R479 hotspot mutations inactivate Fbxw7, and therefore, R479G is predicted to lead to a loss of function (PMID: 17646409, PMID: 17575125, PMID: 22608923). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R479G |
Transcript | NM_033632.3 |
gDNA | chr4:g.152326215G>C |
cDNA | c.1435C>G |
Protein | p.R479G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532084.3 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152326215G>C | c.1435C>G | p.R479G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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