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Gene ATM
Variant E2294G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM E2294G lies within the FAT domain of the Atm protein (UniProt.org). E2294G has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM E2294G

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Transcript NM_000051.4
gDNA chr11:g.108326131A>G
cDNA c.6881A>G
Protein p.E2294G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.4 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108326131A>G c.6881A>G p.E2294G RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108326131A>G c.6881A>G p.E2294G 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
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Molecular Profile Protein Effect Treatment Approaches
ATM E2294G unknown