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Gene | IDH2 |
Variant | K48N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | IDH2 K48N does not lie within any known functional domains of the Idh2 protein (UniProt.org). K48N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Idh2 protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
IDH2 mutant IDH2 K48N |
Transcript | NM_002168.4 |
gDNA | chr15:g.90091616C>G |
cDNA | c.144G>C |
Protein | p.K48N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002168.4 | chr15:g.90091616C>G | c.144G>C | p.K48N | RefSeq | GRCh38/hg38 |
NM_002168 | chr15:g.90091616C>G | c.144G>C | p.K48N | RefSeq | GRCh38/hg38 |
NM_002168.3 | chr15:g.90091616C>G | c.144G>C | p.K48N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
IDH2 K48N | unknown |