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Gene | FGFR2 |
Variant | Y340H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 Y340H lies within Ig-like C2-type domain 3 of the Fgfr2 protein (UniProt.org). Y340H has been identified in sequencing studies (PMID: 16418739), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FGFR2 mutant FGFR2 Y340H |
Transcript | NM_000141.5 |
gDNA | chr10:g.121517385A>G |
cDNA | c.1018T>C |
Protein | p.Y340H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320658 | chr10:g.121517385A>G | c.1018T>C | p.Y340H | RefSeq | GRCh38/hg38 |
NM_001320658.1 | chr10:g.121517385A>G | c.1018T>C | p.Y340H | RefSeq | GRCh38/hg38 |
NM_001320658.2 | chr10:g.121517385A>G | c.1018T>C | p.Y340H | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121517385A>G | c.1018T>C | p.Y340H | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121517385A>G | c.1018T>C | p.Y340H | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121517385A>G | c.1018T>C | p.Y340H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR2 Y340H | unknown |