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Gene | IDH1 |
Variant | I130_G131insRCI |
Impact List | insertion |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 I130_G131insRCI results in the insertion of three amino acids of the Idh1 protein between amino acids 130 and 131 (UniProt.org). I130_G131insRCI has not been characterized in the scientific literature and therefore, its effect on Idh1 protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 I130_G131insRCI |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248392_208248393insGATACACCT |
cDNA | c.390_391insAGGTGTATC |
Protein | p.I130_G131insRCI |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005896.3 | chr2:g.208248392_208248393insGATACACCT | c.390_391insAGGTGTATC | p.I130_G131insRCI | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248392_208248393insGATACACCT | c.390_391insAGGTGTATC | p.I130_G131insRCI | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248392_208248393insGATACACCT | c.390_391insAGGTGTATC | p.I130_G131insRCI | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248392_208248393insGATACACCT | c.390_391insAGGTGTATC | p.I130_G131insRCI | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208248392_208248393insGATACACCT | c.390_391insAGGTGTATC | p.I130_G131insRCI | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248392_208248393insGATACACCT | c.390_391insAGGTGTATC | p.I130_G131insRCI | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH1 I130_G131insRCI | unknown |