ATM H2038Y
Gene Variant Detail

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Gene ATM
Variant H2038Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM H2038Y lies within the FAT domain of the Atm protein (UniProt.org). H2038Y results in impaired ability to rescue survival of ATM-deficient cells upon irradiation in culture (PMID: 29059438), 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 H2038Y

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Transcript NM_000051.4
gDNA chr11:g.108316027C>T
cDNA c.6112C>T
Protein p.H2038Y
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • 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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