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Gene FGFR2
Variant H167_N173del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions FGFR2 H167_N173del results in the deletion of seven amino acids in Ig-like C2-type domain 2 of the Fgfr2 protein from amino acids 167 to 173 (UniProt.org). H167_N173del results in cell transformation (J Clin Oncol 38, 2020 (suppl 4; abstr 567), PMID: 33926920), increased proliferation, invasion, and migration (PMID: 37964396), anchorage-independent growth, constitutive activation of Fgfr2 kinase activity in culture, and tumor formation in an in vivo model (PMID: 33926920).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 H167_N173del

FGFR2 mutant FGFR2 exon5 FGFR2 exon 5 del FGFR2 H167_N173del

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Transcript NM_000141.5
gDNA chr10:g.121551396_121551416del21
cDNA c.499_519del21
Protein p.H167_N173delHAVPAAN
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144917 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
XM_017015921.3 chr10:g.121551452_121564514del13063 c.499_519del13063 p.S167_P173delSNNKRAP RefSeq GRCh38/hg38
NM_001144918.2 chr10:g.121520055_121520075del21 c.499_519del21 p.S167_I173delSDAQPHI RefSeq GRCh38/hg38
XM_024447890.2 chr10:g.121538611_121538631del21 c.502_522del21 p.G168_Y174delGSINHTY RefSeq GRCh38/hg38
NM_001320654.2 chr10:g.121515201_121515221del21 c.499_519del21 p.V167_K173delVILCRMK RefSeq GRCh38/hg38
XM_006717708.4 chr10:g.121551452_121564514del13063 c.499_519del13063 p.S167_P173delSNNKRAP RefSeq GRCh38/hg38
NM_001144917.1 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
NM_000141 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
NM_001144917.2 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
XM_024447889.2 chr10:g.121538611_121538631del21 c.502_522del21 p.G168_Y174delGSINHTY RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
NM_022970 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
XM_024447888.2 chr10:g.121538611_121538631del21 c.502_522del21 p.G168_Y174delGSINHTY RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121520055_121520075del21 c.499_519del21 p.S167_I173delSDAQPHI RefSeq GRCh38/hg38
XM_024447887.2 chr10:g.121538611_121538631del21 c.502_522del21 p.G168_Y174delGSINHTY RefSeq GRCh38/hg38
XM_017015925.3 chr10:g.121520113_121520133del21 c.499_519del21 p.P167_V173delPANASTV RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
NM_001144915.2 chr10:g.121520133_121520153del21 c.501_521del21 p.I168_P174delILQAGLP RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173delHAVPAAN RefSeq GRCh38/hg38
NM_001144913 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
XM_006717710.5 chr10:g.121551452_121564514del13063 c.499_519del13063 p.S167_P173delSNNKRAP RefSeq GRCh38/hg38
XM_024447891.2 chr10:g.121520113_121520133del21 c.499_519del21 p.P167_V173delPANASTV RefSeq GRCh38/hg38
XM_017015920.3 chr10:g.121551452_121564514del13063 c.499_519del13063 p.S167_P173delSNNKRAP RefSeq GRCh38/hg38
NM_023029.2 chr10:g.121520133_121520153del21 c.501_521del21 p.I168_P174delILQAGLP RefSeq GRCh38/hg38
NM_001144914 chr10:g.121551396_121551416del21 c.499_519del21 p.H167_N173del RefSeq GRCh38/hg38
XM_017015924.3 chr10:g.121520113_121520133del21 c.499_519del21 p.P167_V173delPANASTV RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121520133_121520153del21 c.501_521del21 p.I168_P174delILQAGLP RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 H167_N173del cholangiocarcinoma sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) decreased viability of a cholangiocarcinoma cell line expressing FGFR2 H167_N173del in culture (PMID: 37964396). 37964396
FGFR2 H167_N173del intrahepatic cholangiocarcinoma predicted - sensitive Zoligratinib Case Reports/Case Series Actionable In a clinical study, Debio 1347 treatment resulted in durable partial response of 11 months in 2 patients with intrahepatic cholangiocarcinoma harboring FGFR2 H167_N173del (J Clin Oncol 38, 2020 (suppl 4; abstr 567)). detail...
FGFR2 H167_N173del intrahepatic cholangiocarcinoma predicted - sensitive Zoligratinib Case Reports/Case Series Actionable In a Phase I trial, Debio 1347 treatment led to 51% tumor reduction and a progression-free survival of 13 months in an intrahepatic cholangiocarcinoma patient harboring FGFR2 H167_N173del, which was consistent with inhibition of growth in an intrahepatic cholangiocarcinoma cell line expressing FGFR2 H167_N173del in culture (PMID: 33926920; NCT01948297). 33926920
FGFR2 H167_N173del marginal zone lymphoma predicted - sensitive Zoligratinib Preclinical - Cell culture Actionable In a clinical case study, Debio 1347 treatment in a marginal zone lymphoma patient harboring FGFR2 H167_N173del, who had previously been treated with several lines of therapy, led to a partial response and 36% decrease in tumor burden associated with lymphadenopathy and lung and liver lesions at 16 weeks, with continued response after 7 months (PMID: 33926920). 33926920
FGFR2 H167_N173del intrahepatic cholangiocarcinoma predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) inhibited growth of an intrahepatic cholangiocarcinoma cell line expressing FGFR2 H167_N173del in culture (PMID: 33926920). 33926920