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Gene | KMT2A |
Variant | G3376D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A G3376D does not lie within any known functional domains of the Kmt2a protein (UniProt.org). G3376D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A G3376D |
Transcript | NM_005933.4 |
gDNA | chr11:g.118506028G>A |
cDNA | c.10127G>A |
Protein | p.G3376D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933 | chr11:g.118506028G>A | c.10127G>A | p.G3376D | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118506028G>A | c.10127G>A | p.G3376D | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118506028G>A | c.10127G>A | p.G3376D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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