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 | ATM |
Variant | K1964E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM K1964E lies within the FAT domain of the Atm protein (UniProt.org). K1964E has been identified in sequencing studies (PMID: 26675346, PMID: 12810666, PMID: 33436325), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM K1964E |
Transcript | NM_000051.4 |
gDNA | chr11:g.108310287A>G |
cDNA | c.5890A>G |
Protein | p.K1964E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |