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Gene | KMT2A |
Variant | R933Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A R933Q does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R933Q has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A R933Q |
Transcript | NM_005933.4 |
gDNA | chr11:g.118473957G>A |
cDNA | c.2798G>A |
Protein | p.R933Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933 | chr11:g.118473957G>A | c.2798G>A | p.R933Q | RefSeq | GRCh38/hg38 |
NM_001197104.2 | chr11:g.118473957G>A | c.2798G>A | p.R933Q | RefSeq | GRCh38/hg38 |
NM_001197104.1 | chr11:g.118473957G>A | c.2798G>A | p.R933Q | RefSeq | GRCh38/hg38 |
NM_001197104 | chr11:g.118473957G>A | c.2798G>A | p.R933Q | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118473957G>A | c.2798G>A | p.R933Q | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118473957G>A | c.2798G>A | p.R933Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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