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 | E470Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 E470Q lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). E470Q has been identified in sequencing studies (PMID: 25035393), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 E470Q |
Transcript | NM_000141.5 |
gDNA | chr10:g.121503821C>G |
cDNA | c.1408G>C |
Protein | p.E470Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141 | chr10:g.121503821C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121503821C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
NM_001144916.1 | chr10:g.121496642C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121503821C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
XM_024447891.1 | chr10:g.121496702C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
XM_006717712 | chr10:g.121496702C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
NM_001144916 | chr10:g.121496642C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
XM_024447891.2 | chr10:g.121496702C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
NM_001144916.2 | chr10:g.121496642C>G | c.1408G>C | p.E470Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 E470Q | unknown |