Gene Variant Detail

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Gene ATM
Variant D126E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM D126E does not lie within any known functional domains of the Atm protein (UniProt.org). D126E has been identified in the scientific literature (PMID: 11443540, PMID: 16520463, PMID: 24793135), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Aug 2022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM D126E

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Transcript NM_000051.3
gDNA chr11:g.108235716T>G
cDNA c.378T>G
Protein p.D126E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017792 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_005271561 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_011542843 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_017017789 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_011542842.3 chr11:g.108243999T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_017017791 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_011542842 chr11:g.108243999T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
NM_000051 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_011542840 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_006718843 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_017017790 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
XM_005271562 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108235716T>G c.378T>G p.D126E RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • 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

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