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Gene | ATM |
Variant | S2859F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ATM S2859F lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). S2859F has been identified in the scientific literature (PMID: 29449575, PMID: 24825865), 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 S2859F |
Transcript | NM_000051.4 |
gDNA | chr11:g.108345900C>T |
cDNA | c.8576C>T |
Protein | p.S2859F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |