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Gene | KMT2A |
Variant | R3886* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A R3886* results in a premature truncation of the Kmt2a protein at amino acid 3886 of 3969 (UniProt.org). R3886* has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A R3886* |
Transcript | NM_005933.4 |
gDNA | chr11:g.118521918C>T |
cDNA | c.11656C>T |
Protein | p.R3886* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933.3 | chr11:g.118521918C>T | c.11656C>T | p.R3886* | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118521918C>T | c.11656C>T | p.R3886* | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118521918C>T | c.11656C>T | p.R3886* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KMT2A R3886* | unknown |