ATM R3008H
Gene Variant Detail

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Gene ATM
Variant R3008H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATM R3008H does not lie within any known functional domains of the Atm protein (UniProt.org). R3008H demonstrates kinase activity in an in vitro assay and recruitment to DNA damage sites similar to wild-type Atm protein, but results in decreased Atm activation, altered irradiation-induced cell cycle checkpoint, partial loss of tumor suppressor function (PMID: 33239428), and failure to induce Tp53 target gene expression after DNA damage in patient-derived cells (PMID: 23585524), and therefore, is predicted to lead to a loss of Atm protein function.
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R3008H

ATM mutant ATM R3008X ATM R3008H

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Transcript NM_000051.4
gDNA chr11:g.108365360G>A
cDNA c.9023G>A
Protein p.R3008H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.4 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017789 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_005271562 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_011542840 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017790 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_006718843 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_005271561 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_000051 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108365360G>A c.9023G>A p.R3008H RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108365360G>A c.9023G>A p.R3008H 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