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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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 N631_M640del | cholangiocarcinoma | sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) decreased viability of a cholangiocarcinoma cell line expressing FGFR2 N631_M640del in culture (PMID: 37964396). | 37964396 |