Gene Variant Detail

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Gene ATM
Variant E522*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM E522* results in a premature truncation of the Atm protein at amino acid 522 of 3056 (UniProt.org). E522* has not been characterized, however, due to the effects of other truncation mutations downstream of E522 (PMID: 16603769), is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM E522*

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Transcript NM_000051.4
gDNA chr11:g.108251029G>T
cDNA c.1564G>T
Protein p.E522*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.3 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_011542845 chr11:g.108271097G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_017017790 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_017017791 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_005271562 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_006718843 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
NM_000051 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_017017792 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_005271561 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_011542845.2 chr11:g.108271097G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_011542843 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_017017789 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_011542840 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108251029G>T c.1564G>T p.E522* RefSeq 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
  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries