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Gene | ATM |
Variant | L348_M349insYIV |
Impact List | insertion |
Protein Effect | unknown |
Gene Variant Descriptions | ATM L348_M349insYIV results in the insertion of three amino acids in the Atm protein between amino acids 348 and 349 (UniProt.org). L348_M349insYIV has not been characterized in the scientific literature and therefore, its effect on Atm protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM L348_M349insYIV |
Transcript | NM_000051.4 |
gDNA | chr11:g.108247106_108247107insTATATCGTA |
cDNA | c.1044_1045insTATATCGTA |
Protein | p.L348_M349insYIV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |