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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 similar cell proliferation and viability levels as 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_001320658.1 | 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_022970.3 | 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_001144914.1 | 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_001320658.2 | 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_001144913.1 | 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_001320658 | 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_001144917 | 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_000141.4 | 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_022970.4 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 M186T | loss of function - predicted |