Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.
Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.
Stay tuned for these updates, and thank you for being part of our community!
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 | N550H |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | FGFR2 N550H (corresponds to N549H in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550H results in increased Fgfr2 kinase activity, as well as increased Fgfr2 phosphorylation and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597). |
Associated Drug Resistance | Y |
Category Variants Paths |
FGFR2 mutant FGFR2 act mut FGFR2 N550H |
Transcript | NM_022970.4 |
gDNA | chr10:g.121498522T>G |
cDNA | c.1648A>C |
Protein | p.N550H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144919 | chr10:g.121488065T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121498522T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121498522T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487993T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498522T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121498522T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_001144919.1 | chr10:g.121488065T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121498522T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121487993T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121487993T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121488065T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121498522T>G | c.1648A>C | p.N550H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 fusion FGFR2 N550H | intrahepatic cholangiocarcinoma | decreased response | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Truseltiq (infigratinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550H had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). | 31109923 |
FGFR2 fusion FGFR2 N550H | intrahepatic cholangiocarcinoma | decreased response | Zoligratinib | Preclinical - Cell culture | Actionable | In a preclinical study, Debio 1347 treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550H had weakened sensitivity, as demonstrated by cell viability and downstream signaling assays (PMID: 31109923). | 31109923 |
FGFR2 fusion FGFR2 N550H | intrahepatic cholangiocarcinoma | sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lytgobi (futibatinib) treatment of intrahepatic cholangiocarcinoma cells with an FGFR2 fusion in context with FGFR2 N550H were sensitive to treatment as demonstrated by decreased cell viability and decreased activation of downstream signaling (PMID: 31109923). | 31109923 |
FGFR2 rearrange FGFR2 N550D FGFR2 N550H FGFR2 N550K FGFR2 N550T FGFR2 V565I FGFR2 V565L | cholangiocarcinoma | predicted - resistant | Pemigatinib | Case Reports/Case Series | Actionable | In a retrospective analysis, a cholangiocarcinoma patient harboring an FGFR2 rearrangement progressed on treatment with Pemazyre (pemigatinib) and was found to have acquired FGFR2 N550K, N550D, N550T, N550H, and V565I via cell-free DNA, and FGFR2 V565L via cell-free DNA and tissue biopsy (PMID: 39706336). | 39706336 |