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| Gene | FGFR3 |
| Variant | E322K |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | FGFR3 E322K lies within Ig-like C2-type domain 3 of the Fgfr3 protein (UniProt.org). E322K results in proliferation similar to wild-type Fgfr3 in a competition assay and transformation activity similar to wild-type Fgfr3 in cultured cells (PMID: 34272467), and therefore, is predicted to have no effect on Fgfr3 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FGFR3 mutant FGFR3 E322K |
| Transcript | NM_000142.5 |
| gDNA | chr4:g.1803725G>A |
| cDNA | c.964G>A |
| Protein | p.E322K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047449823.1 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_011513422 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| NM_000142.4 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_006713872 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| NM_001354810.1 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_011513420.2 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_006713873.2 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_006713873.1 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| NM_001354810.2 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_047449824.1 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_006713873 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_011513420.1 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_047449822.1 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| NM_001354809.1 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_011513420 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| NM_001354809.2 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_011513422.1 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| XM_011513422.2 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| NM_000142 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| NM_000142.5 | chr4:g.1803725G>A | c.964G>A | p.E322K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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