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 | N631_M640del |
| Impact List | deletion |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FGFR2 N631_M640del results in the deletion of 10 amino acids in the protein kinase domain of the Fgfr2 protein from amino acids 631 to 640 (UniProt.org). N631_M640del results in increased proliferation, migration, and invasion in cultured cells (PMID: 37964396), and therefore, is predicted to lead to a gain of Fgfr2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 N631_M640del |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121488057_121488086del30 |
| cDNA | c.1893_1922del30 |
| Protein | p.N631_M640del |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000141.5 | chr10:g.121488057_121488086del30 | c.1893_1922del30 | p.N631_M640del | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|