ATM H2554D
Gene Variant Detail

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Gene ATM
Variant H2554D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM H2554D lies within the FAT domain of the Atm protein (UniProt.org). H2554D results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188), 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 H2554D

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Transcript NM_000051.4
gDNA chr11:g.108331909C>G
cDNA c.7660C>G
Protein p.H2554D
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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