ATM R2691C - Gene Variant Detail

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Gene ATM
Variant R2691C
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R2691C does not lie within any known functional domains of the Atm protein (UniProt.org). R2691C results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), and via structural modeling, demonstrates potential for impaired kinase activity of Atm (PMID: 21993670), 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 R2691C

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Transcript NM_000051.4
gDNA chr11:g.108335029C>T
cDNA c.8071C>T
Protein p.R2691C
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
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