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Gene | FGFR2 |
Variant | M391R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 M391R lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). The functional effect of M391R is conflicting, as it has been reported to result in increased nucleolar Fgfr2 activity and cell proliferation in one study (PMID: 24908667), but results in similar cell proliferation and viability levels to wild-type Fgfr2 in two different cell lines in another study (PMID: 29533785), and therefore, its effect on Fgfr2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 M391R |
Transcript | NM_000141.5 |
gDNA | chr10:g.121515232A>C |
cDNA | c.1172T>G |
Protein | p.M391R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000141.4 | chr10:g.121515232A>C | c.1172T>G | p.M391R | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121515232A>C | c.1172T>G | p.M391R | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121515232A>C | c.1172T>G | p.M391R | RefSeq | GRCh38/hg38 |
NM_001320658 | chr10:g.121515232A>C | c.1172T>G | p.M391R | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121515232A>C | c.1172T>G | p.M391R | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121515232A>C | c.1172T>G | p.M391R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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