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Gene | KMT2A |
Variant | R427W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A R427W does not lie within any known functional domains of the Kmt2a protein (UniProt.org). R427W has not been characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jul 2022). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A R427W |
Transcript | NM_005933.3 |
gDNA | chr11:g.118472438C>T |
cDNA | c.1279C>T |
Protein | p.R427W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001197104 | chr11:g.118472438C>T | c.1279C>T | p.R427W | RefSeq | GRCh38/hg38 |
NM_005933.3 | chr11:g.118472438C>T | c.1279C>T | p.R427W | RefSeq | GRCh38/hg38 |
NM_001197104.1 | chr11:g.118472438C>T | c.1279C>T | p.R427W | RefSeq | GRCh38/hg38 |
NM_005933 | chr11:g.118472438C>T | c.1279C>T | p.R427W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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