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Gene | FGFR3 |
Variant | G66fs |
Impact List | frameshift |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | FGFR3 G66fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 66 of 806, likely resulting in premature truncation of the functional protein (UniProt.org). G66fs 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 G66fs |
Transcript | NM_000142.5 |
gDNA | chr4:g.(1799339_1799340) |
cDNA | c.(196_195) |
Protein | p.G66fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047449822.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_047449824.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713873.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713871.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713870.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713869.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713871.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713868.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_011513422.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_011513422.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_001163213.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_001354809.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_047449820.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_001163213.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_001354809.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713873.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_001354810.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_022965.4 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_011513420.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713870.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713869.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_011513420.2 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_047449821.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_022965.3 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_047449823.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_000142.5 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_000142.4 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
NM_001354810.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
XM_006713868.1 | chr4:g.(1799339_1799340) | c.(196_195) | p.G66fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FGFR3 G66fs | no effect - predicted |