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Gene | FGFR2 |
Variant | G227E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 G227E lies within the Ig-like C2-type 2 domain of the Fgfr2 protein (UniProt.org). The functional effect of G227E is conflicting, as it has been reported to impair receptor processing and trafficking to the cell membrane and reduce ligand-dependent cell proliferation in one study (PMID: 19147536), similar cell proliferation and viability levels to wild-type Fgfr2 in two different cell lines in another study (PMID: 29533785), and a growth advantage relative to wild-type Fgfr2 in a competition assay but transformation activity similar to wild-type Fgfr2 in cultured cells (PMID: 34272467), and therefore, its effect on Fgfr2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 G227E |
Transcript | NM_000141.5 |
gDNA | chr10:g.121538660C>T |
cDNA | c.680G>A |
Protein | p.G227E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144915.2 | chr10:g.121517455_121517456delGTinsAG | c.680_681delGTinsAG | p.G227E | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144917 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144919.1 | chr10:g.121518822C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_023029.2 | chr10:g.121517455_121517456delGTinsAG | c.680_681delGTinsAG | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144917.1 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_023029 | chr10:g.121517455_121517456delACinsCT | c.680_681delGTinsAG | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144919 | chr10:g.121518822C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144915.1 | chr10:g.121517455_121517456delGTinsAG | c.680_681delGTinsAG | p.G227E | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144915 | chr10:g.121517455_121517456delACinsCT | c.680_681delGTinsAG | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144914 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_023029.2 | chr10:g.121517455_121517456delGTinsAG | c.680_681delGTinsAG | p.G227E | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144919.2 | chr10:g.121518822C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_022970 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
NM_001144913 | chr10:g.121538660C>T | c.680G>A | p.G227E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 G227E | Advanced Solid Tumor | predicted - sensitive | Fexagratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 G227E were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 G227E | Advanced Solid Tumor | predicted - sensitive | Infigratinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 G227E were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 G227E | Advanced Solid Tumor | predicted - resistant | Dovitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 G227E were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). | 34272467 |
FGFR2 G227E | Advanced Solid Tumor | predicted - sensitive | Erdafitinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 G227E were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 G227E | Advanced Solid Tumor | predicted - sensitive | Futibatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 G227E were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 G227E | Advanced Solid Tumor | predicted - sensitive | Pemigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 G227E were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |
FGFR2 G227E | Advanced Solid Tumor | predicted - sensitive | E7090 | Preclinical - Cell culture | Actionable | In a preclinical study, cells expressing FGFR2 G227E were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). | 34272467 |