ATM P1054R - Gene Variant Detail

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Gene ATM
Variant P1054R
Impact List missense
Protein Effect no effect
Gene Variant Descriptions ATM P1054R does not lie within any known functional domains of the Atm protein (UniProt.org). P1054R demonstrates kinase activity similar to wild-type Atm (PMID: 18573109, PMID: 19431188) and functional G2/M checkpoint control in culture (PMID: 19431188), and ability to induce expression of TP53 target genes upon DNA damage in patient-derived cells (PMID: 23585524).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM P1054R

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Transcript NM_000051.4
gDNA chr11:g.108272729C>G
cDNA c.3161C>G
Protein p.P1054R
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.