Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | FGFR3 |
Variant | S756P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR3 S756P lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). S756P has not been characterized in the scientific literature and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR3 mutant FGFR3 S756P |
Transcript | NM_000142.5 |
gDNA | chr4:g.1806926T>C |
cDNA | c.2266T>C |
Protein | p.S756P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000142.5 | chr4:g.1806926T>C | c.2266T>C | p.S756P | RefSeq | GRCh38/hg38 |
XM_006713873 | chr4:g.1806926T>C | c.2266T>C | p.S756P | RefSeq | GRCh38/hg38 |
NM_000142 | chr4:g.1806926T>C | c.2266T>C | p.S756P | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.1806926T>C | c.2266T>C | p.S756P | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.1806926T>C | c.2266T>C | p.S756P | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.1806926T>C | c.2266T>C | p.S756P | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.1806926T>C | c.2266T>C | p.S756P | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.1806926T>C | c.2266T>C | p.S756P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR3 S756P | lung non-small cell carcinoma | no benefit | Fexagratinib | Case Reports/Case Series | Actionable | In a Phase II trial (NLMT), AZD4547 treatment did not result in a confirmed response or durable clinical benefit in a patient with non-small cell lung cancer harboring FGFR3 S758P (corresponds to S756P in the canonical isoform (PMID: 32669708, NCT02664935). | 32669708 |