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Gene | ATM |
Variant | Y2371* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ATM Y2371* results in a premature truncation of the Atm protein at amino acid 2371 of 3056 (UniProt.org). Y2371* has not been characterized, however, due to the effects of other truncation mutations downstream of Y2371 (PMID: 16603769), is predicted to lead to a loss of Atm protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ATM mutant ATM inact mut ATM Y2371* |
Transcript | NM_000051.4 |
gDNA | chr11:g.108329044T>A |
cDNA | c.7113T>A |
Protein | p.Y2371* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |