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Gene | FGFR2 |
Variant | G462E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FGFR2 G462E lies within the cytoplasmic domain of the Fgfr2 protein (UniProt.org). G462E has been identified in sequencing studies (PMID: 25035393), 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 G462E |
Transcript | NM_000141.5 |
gDNA | chr10:g.121503844C>T |
cDNA | c.1385G>A |
Protein | p.G462E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001320654.2 | chr10:g.121485521C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
XM_017015924 | chr10:g.121496722C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
NM_001320654.1 | chr10:g.121485521C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
XM_017015924.3 | chr10:g.121496722C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
XM_017015924.2 | chr10:g.121496722C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
NM_001320654 | chr10:g.121485521C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
NM_000141.5 | chr10:g.121503844C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
NM_000141 | chr10:g.121503844C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
NM_000141.4 | chr10:g.121503844C>T | c.1385G>A | p.G462E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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