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Gene ATM
Variant E518fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM E518fs results in a change in the amino acid sequence of the Atm protein beginning at aa 518 of 3056, likely resulting in premature truncation of the functional protein (UniProt.org). E518fs has not been characterized, however, due to the effects of other truncation mutations downstream of E518 (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 E518fs

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Transcript NM_000051.4
gDNA chr11:g.(108251016_108251017)
cDNA c.(1552_1551)
Protein p.E518fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.3 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
NM_000051.4 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
NM_000051.3 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.(108251016_108251017) c.(1552_1551) p.E518fs RefSeq 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries