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Gene | IDH1 |
Variant | R314H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 R314H lies within an NADP-binding region of the Idh1 protein (UniProt.org). R314H has been identified in the scientific literature (PMID: 34722261, PMID: 36355572), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 R314H |
Transcript | NM_005896.4 |
gDNA | chr2:g.208239913C>T |
cDNA | c.941G>A |
Protein | p.R314H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005896 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
NM_001282386 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239913C>T | c.941G>A | p.R314H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH1 R314H | unknown |