Gene Variant Detail

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Gene ATM
Variant L2452P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM L2452P lies within the FAT domain of the Atm protein (UniProt.org). L2452P results in decreased protein expression and a loss of phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM L2452P

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Transcript NM_000051.3
gDNA chr11:g.108330261T>C
cDNA c.7355T>C
Protein p.L2452P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_005271562 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_005271561 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_017017789 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_011542843 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_006718843 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
NM_000051 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_011542840 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108330261T>C c.7355T>C p.L2452P RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References