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Gene | KMT2A |
Variant | R3741Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A R3741Q lies within the FYR C-terminal domain of the Kmt2a protein (UniProt.org). R3741Q has not been characterized in the scientific literature and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A R3741Q |
Transcript | NM_005933.4 |
gDNA | chr11:g.118519702G>A |
cDNA | c.11222G>A |
Protein | p.R3741Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005933.3 | chr11:g.118519702G>A | c.11222G>A | p.R3741Q | RefSeq | GRCh38/hg38 |
XM_011542829.3 | chr11:g.118512002_118512003delGCinsAA | c.11222_11223delGCinsAA | p.R3741Q | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118519702G>A | c.11222G>A | p.R3741Q | RefSeq | GRCh38/hg38 |
XM_011542829.2 | chr11:g.118512002_118512003delGCinsAA | c.11222_11223delGCinsAA | p.R3741Q | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118519702G>A | c.11222G>A | p.R3741Q | RefSeq | GRCh38/hg38 |
XM_011542829 | chr11:g.118512002_118512003delGCinsAA | c.11222_11223delGCinsAA | p.R3741Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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