Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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 been identified in sequencing studies (PMID: 37901334), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A R427W |
Transcript | NM_005933.4 |
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_001197104.2 | 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_001197104 | 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 |
NM_005933.3 | chr11:g.118472438C>T | c.1279C>T | p.R427W | RefSeq | GRCh38/hg38 |
NM_005933.4 | chr11:g.118472438C>T | c.1279C>T | p.R427W | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|