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Gene | IDH1 |
Variant | R119W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 R119W does not lie within any known functional domains of the Idh1 protein (UniProt.org). R119W has been identified in sequencing studies (PMID: 28419429, PMID: 23469962, PMID: 37424322), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 R119W |
Transcript | NM_005896.4 |
gDNA | chr2:g.208248428G>A |
cDNA | c.355C>T |
Protein | p.R119W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282387 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208248428G>A | c.355C>T | p.R119W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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