ATM R2912G - Gene Variant Detail

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Gene ATM
Variant R2912G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM R2912G lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). R2912G is associated with retention of Atm expression and phosphorylation in patient samples (PMID: 36555667, PMID: 17166884) and decreased Chk1 phosphorylation compared to wild-type Atm in patient samples (PMID: 17166884), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Feb 2025).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM R2912G

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Transcript NM_000051.4
gDNA chr11:g.108353828A>G
cDNA c.8734A>G
Protein p.R2912G
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.