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Gene | FGFR2 |
Variant | H242Y |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR2 H242Y lies within Ig-like C2-type domain 2 of the Fgfr2 protein (UniProt.org). H242Y results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 H242Y |
Transcript | NM_000141.5 |
gDNA | chr10:g.121538616G>A |
cDNA | c.724C>T |
Protein | p.H242Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001144917.1 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_022970.4 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_022970.3 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_001144914.1 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_001144913.1 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
NM_001144917.2 | chr10:g.121538616G>A | c.724C>T | p.H242Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 H242Y | no effect - predicted |