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Gene | FGFR3 |
Variant | V700A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 V700A lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). V700A has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Mar 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 V700A |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806614T>C |
cDNA | c.2099T>C |
Protein | p.V700A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713873 | chr4:g.1806614T>C | c.2099T>C | p.V700A | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.1806614T>C | c.2099T>C | p.V700A | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1806614T>C | c.2099T>C | p.V700A | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806614T>C | c.2099T>C | p.V700A | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1806614T>C | c.2099T>C | p.V700A | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806614T>C | c.2099T>C | p.V700A | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806614T>C | c.2099T>C | p.V700A | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1806614T>C | c.2099T>C | p.V700A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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