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@jax.org
Gene | FGFR2 |
Variant | G542A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 G542A lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). G542A has been identified in the scientific literature (PMID: 38267212), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Feb 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 G542A |
Transcript | NM_000141.5 |
gDNA | chr10:g.121498542C>G |
cDNA | c.1625G>C |
Protein | p.G542A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121498542C>G | c.1625G>C | p.G542A | RefSeq | GRCh38/hg38 |
XM_024447888.2 | chr10:g.121496557C>G | c.1625G>C | p.G542A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 G542A FGFR2 V564L FGFR2 amp | stomach cancer | sensitive | KIN-3248 | Preclinical - Pdx | Actionable | In a preclinical study, KIN-3248 treatment inhibited tumor growth in a gastric cancer patient derived xenograft (PDX) model harboring FGFR2 V564L and G542A with FGFR2 amplification (PMID: 38267212). | 38267212 |