Gene Variant Detail

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Gene ATM
Variant V2727A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ATM V2727A lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). V2727A has been identified in sequencing studies (PMID: 24145436), but has not been biochemically characterized and therefore, its effect on Atm protein function is unknown (PubMed, Sep 2022).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM V2727A

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Transcript NM_000051.3
gDNA chr11:g.108335873T>C
cDNA c.8180T>C
Protein p.V2727A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006718843 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_017017790 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_005271561 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
NM_000051 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_017017789 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_011542843 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_011542840 chr11:g.108335873T>C c.8180T>C p.V2727A RefSeq GRCh38/hg38
XM_005271562 chr11:g.108335873T>C c.8180T>C p.V2727A 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