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Gene | IDH1 |
Variant | D375Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH1 D375Y does not lie within any known functional domains of the Idh1 protein (UniProt.org). D375Y has been identified in the scientific literature (PMID: 32313423), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH1 mutant IDH1 D375Y |
Transcript | NM_005896.4 |
gDNA | chr2:g.208239102C>A |
cDNA | c.1123G>T |
Protein | p.D375Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001282386 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
NM_005896.4 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
NM_001282387.1 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
NM_005896 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
NM_001282386.1 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
NM_001282387 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
NM_005896.3 | chr2:g.208239102C>A | c.1123G>T | p.D375Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH1 D375Y | unknown |