ATM L2338P
Gene Variant Detail

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Gene ATM
Variant L2338P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM L2338P lies within the FAT domain of the Atm protein (UniProt.org). L2338P results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM L2338P

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Transcript NM_000051.4
gDNA chr11:g.108327682T>C
cDNA c.7013T>C
Protein p.L2338P
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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