ATM L1322I - Gene Variant Detail

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Gene ATM
Variant L1322I
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions ATM L1322I does not lie within any known functional domains of the Atm protein (UniProt.org). L1322I results in Atm expression and phosphorylation levels of Atm and downstream targets similar to wild-type Atm in response to irradiation in culture (PMID: 19431188), and therefore, is predicted to have no effect on Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM L1322I

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Transcript NM_000051.4
gDNA chr11:g.108284444C>A
cDNA c.3964C>A
Protein p.L1322I
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.