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| Gene | KMT2A |
| Variant | E1361* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | KMT2A E1361* results in a premature truncation of the Kmt2a protein at amino acid 1361 of 3969 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E1361* is predicted to lead to a loss of Kmt2a protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
KMT2A mutant KMT2A inact mut KMT2A E1361* |
| Transcript | NM_005933.4 |
| gDNA | chr11:g.118482490G>T |
| cDNA | c.4081G>T |
| Protein | p.E1361* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001197104.1 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
| NM_001197104 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
| NM_001197104.2 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
| NM_005933.4 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
| NM_005933.3 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
| NM_005933 | chr11:g.118482490G>T | c.4081G>T | p.E1361* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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