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 | R1532C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KMT2A R1532C lies within PHD-type zinc finger domain 2 of the Kmt2a protein (UniProt.org). R1532C has been identified in sequencing studies (PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Kmt2a protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
KMT2A mutant KMT2A R1532C |
Transcript | NM_005933.4 |
gDNA | chr11:g.118490147C>T |
cDNA | c.4594C>T |
Protein | p.R1532C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |