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 | FGFR2 |
Variant | E768* |
Impact List | nonsense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | FGFR2 E768* results in a premature truncation of the Fgfr2 protein at amino acid 768 of 821 (UniProt.org). E768* is predicted to lead to a gain of Fgfr2 protein function as a corresponding mouse variant (E673*) activates FGFR2 signaling and promotes colony formation in cell culture, and leads to tumor formation in a mouse model (PMID: 35948633). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 E768* |
Transcript | NM_000141.5 |
gDNA | chr10:g.121480021C>A |
cDNA | c.2302G>T |
Protein | p.E768* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121480021C>A | c.2302G>T | p.E768* | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121480021C>A | c.2302G>T | p.E768* | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121483700C>A | c.2302G>T | p.E768* | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121483700C>A | c.2302G>T | p.E768* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 E768* | breast cancer | predicted - sensitive | Fexagratinib | Preclinical | Actionable | In a preclinical study, AZD4547 inhibited FGFR2 signaling and growth in mouse mammary epithelial cells expressing FGFR2 E673* (corresponding to E768* in human) in culture and inhibited tumor growth in an orthotopic model (PMID: 35948633). | 35948633 |
FGFR2 E768* | breast cancer | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) inhibited growth of mouse mammary epithelial cells expressing FGFR2 E673* (corresponding to E768* in human) in culture (PMID: 35948633). | 35948633 |
FGFR2 E768* | breast cancer | predicted - sensitive | Zoligratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Debio 1347 inhibited growth of mouse mammary epithelial cells expressing FGFR2 E673* (corresponding to E768* in human) in culture (PMID: 35948633). | 35948633 |
FGFR2 E768* | breast cancer | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Pemazyre (pemigatinib) inhibited growth of mouse mammary epithelial cells expressing FGFR2 E673* (corresponding to E768* in human) in culture (PMID: 35948633). | 35948633 |