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| Gene | KMT2A |
| Variant | R2160Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KMT2A R2160Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R2160Q has been identified in sequencing studies (PMID: 26343386), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
KMT2A mutant KMT2A R2160Q |
| Transcript | NM_005933.4 |
| gDNA | chr11:g.118501840G>A |
| cDNA | c.6479G>A |
| Protein | p.R2160Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005933.4 | chr11:g.118501840G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
| XM_011542829 | chr11:g.118501732G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
| XM_011542829.2 | chr11:g.118501732G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
| NM_005933.3 | chr11:g.118501840G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
| NM_005933 | chr11:g.118501840G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
| XM_011542829.3 | chr11:g.118501732G>A | c.6479G>A | p.R2160Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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