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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 |