Gene Variant Detail

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Gene ATM
Variant Q2730P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM Q2730P lies within the PI3K/PI4K domain of the Atm protein (UniProt.org). Q2730P results in decreased protein expression, loss of phosphorylation of Atm and downstream targets, and failure to form foci in response to irradiation in culture (PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM Q2730P

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Transcript NM_000051.4
gDNA chr11:g.108335882A>C
cDNA c.8189A>C
Protein p.Q2730P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542843 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_006718843 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_005271562 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_005271561 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_011542840 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
NM_000051 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_017017790 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_017017789 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108335882A>C c.8189A>C p.Q2730P RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108335882A>C c.8189A>C p.Q2730P 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries