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Gene | ATM |
Variant | D1963N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM D1963N lies within the FAT domain of the Atm protein (UniProt.org). D1963N has been identified in the scientific literature (PMID: 24983367, PMID: 28779002), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Mar 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM D1963N |
Transcript | NM_000051.4 |
gDNA | chr11:g.108310284G>A |
cDNA | c.5887G>A |
Protein | p.D1963N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |