ATM R3008H
Gene Variant Detail

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Gene ATM
Variant R3008H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM R3008H does not lie within any known functional domains of the Atm protein (UniProt.org). R3008H results in kinase activity, and recruitment to DNA damage similar to wild-type Atm protein, but decreased Atm activation, altered irradiation-induced cell cycle checkpoint, partial loss of tumor suppressor function (PMID: 33239428), and is associated with failure to induce Tp53 target gene expression after DNA damage in patient-derived cells (PMID: 23585524).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R3008H

ATM mutant ATM R3008X ATM R3008H

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Transcript NM_000051.4
gDNA chr11:g.108365360G>A
cDNA c.9023G>A
Protein p.R3008H
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.