ATM Y2470D
Gene Variant Detail

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Gene ATM
Variant Y2470D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM Y2470D lies within the FAT domain of the Atm protein (UniProt.org). Y2470D results in decreased Atm expression in cultured cells (PMID: 9887333), but has not been fully biochemically characterized and therefore, its effect on Atm protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM Y2470D

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Transcript NM_000051.4
gDNA chr11:g.108330314T>G
cDNA c.7408T>G
Protein p.Y2470D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001351834.2 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108330314T>G c.7408T>G p.Y2470D RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108330314T>G c.7408T>G p.Y2470D 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.

Molecular Profile Protein Effect Treatment Approaches
ATM Y2470D unknown