Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | KMT2A |
| Variant | R736M |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | KMT2A R736M does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R736M has been identified in sequencing studies (PMID: 22810696, PMID: 32732356), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Feb 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
KMT2A mutant KMT2A R736M |
| Transcript | NM_005933.4 |
| gDNA | chr11:g.118473366G>T |
| cDNA | c.2207G>T |
| Protein | p.R736M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005933 | chr11:g.118473366G>T | c.2207G>T | p.R736M | RefSeq | GRCh38/hg38 |
| NM_005933.4 | chr11:g.118473366G>T | c.2207G>T | p.R736M | RefSeq | GRCh38/hg38 |
| NM_001197104.1 | chr11:g.118473366G>T | c.2207G>T | p.R736M | RefSeq | GRCh38/hg38 |
| NM_001197104.2 | chr11:g.118473366G>T | c.2207G>T | p.R736M | RefSeq | GRCh38/hg38 |
| NM_005933.3 | chr11:g.118473366G>T | c.2207G>T | p.R736M | RefSeq | GRCh38/hg38 |
| NM_001197104 | chr11:g.118473366G>T | c.2207G>T | p.R736M | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|