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| Gene | FGFR2 |
| Variant | M186T |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FGFR2 M186T lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). M186T is a common Fgfr2 polymorphism (PMID: 11781872, PMID: 25129254) that results in cell proliferation and viability levels similar to wild-type Fgfr2 (PMID: 29533785), and proliferation similar to wild-type in a competition assay, but decreased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a loss of Fgfr2 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR2 mutant FGFR2 exon5 FGFR2 M186T FGFR2 mutant FGFR2 inact mut FGFR2 M186T |
| Transcript | NM_000141.5 |
| gDNA | chr10:g.121551357A>G |
| cDNA | c.557T>C |
| Protein | p.M186T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001144913.1 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001144917.1 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001320658.2 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001320658 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_000141.4 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_000141.5 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_000141 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001144913 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001144917.2 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001320658.1 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_022970.4 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_022970.3 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001144913.1 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001144917 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001144914 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_022970 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| NM_001144914.1 | chr10:g.121551357A>G | c.557T>C | p.M186T | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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