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Gene | FGFR2 |
Variant | M391R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 M391R lies within Ig-like C2-type domain 3 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_000141.5 | chr10:g.121515232A>C | c.1172T>G | p.M391R | RefSeq | GRCh38/hg38 |
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_001320658.2 | 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_001320658.1 | 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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