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Gene | ATM |
Variant | S1983N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM S1983N lies within the FAT domain of the Atm protein (UniProt.org). S1983N has been identified in sequencing studies (PMID: 25528188, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM S1983N |
Transcript | NM_000051.4 |
gDNA | chr11:g.108312440G>A |
cDNA | c.5948G>A |
Protein | p.S1983N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |