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ATM Q1331H - Gene Variant Detail

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Gene ATM
Variant Q1331H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM Q1331H does not lie within any known functional domains of the Atm protein (UniProt.org). Q1331H has been identified in the scientific literature (PMID: 28055970), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jan 2025).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM Q1331H

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Transcript NM_000051.4
gDNA chr11:g.108284473G>T
cDNA c.3993G>T
Protein p.Q1331H
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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