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Gene IDH1
Variant E17K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 E17K does not lie within any known functional domains of the Idh1 protein (UniProt.org). E17K has been identified in the sequencing studies (PMID: 27406316), 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 E17K

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Transcript NM_005896.4
gDNA chr2:g.208251503C>T
cDNA c.49G>A
Protein p.E17K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001282386.1 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38
NM_005896 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38
NM_001282386 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38
NM_005896.3 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38
NM_001282387 chr2:g.208251503C>T c.49G>A p.E17K RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References