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Gene | FGFR3 |
Variant | D764H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 D764H (corresponds to D762H in the canonical isoform) lies within the cytoplasmic domain of the Fgfr3 protein (UniProt.org). D764H results in increased proliferation in some cell culture conditions, but not others (PMID: 27053219) and therefore, its effect on Fgfr3 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 D764H |
Transcript | NM_001163213.2 |
gDNA | chr4:g.1807125G>C |
cDNA | c.2290G>C |
Protein | p.D764H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001163213.2 | chr4:g.1807125G>C | c.2290G>C | p.D764H | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.1807125G>C | c.2290G>C | p.D764H | RefSeq | GRCh38/hg38 |
XM_011513422 | chr4:g.1807125G>C | c.2290G>C | p.D764H | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.1807125G>C | c.2290G>C | p.D764H | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.1807125G>C | c.2290G>C | p.D764H | RefSeq | GRCh38/hg38 |
NM_001163213 | chr4:g.1807125G>C | c.2290G>C | p.D764H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 D764H | head and neck squamous cell carcinoma | no benefit | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) inhibited proliferation of a head and neck squamous cell carcinoma cell line expressing FGFR3 D764H in culture, however, cells expressing FGFR3 D764H did not demonstrate increased sensitivity to Truseltiq (infigratinib) compared to cells expressing wild-type FGFR3 (PMID: 27053219). | 27053219 |