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 | M722I |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FGFR2 M722I lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). M722I results in decreased proliferation relative to wild-type Fgfr2 in a competition assay and decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 inact mut FGFR2 M722I |
Transcript | NM_000141.5 |
gDNA | chr10:g.121485424C>G |
cDNA | c.2166G>C |
Protein | p.M722I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.5 | chr10:g.121485424C>G | c.2166G>C | p.M722I | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121485424C>G | c.2166G>C | p.M722I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|