Gene Variant Detail

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Gene ATM
Variant S333F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM S333F does not lie within any known functional domains of the Atm protein (UniProt.org). S333F confers a loss of function to the Atm protein as demonstrated by reduced phosphorylation of Atm target proteins Chk2 and H2AX and decreased HDR activity in cultured cells (PMID: 35354106).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S333F

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Transcript NM_000051.4
gDNA chr11:g.108247060C>T
cDNA c.998C>T
Protein p.S333F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017792.2 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_017017789 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_005271562 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_017017791 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_006718843 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_017017792 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542844 chr11:g.108253957C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542843 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_017017790 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542844.4 chr11:g.108253957C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542840 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_011542844.3 chr11:g.108253957C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
XM_005271561 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38
NM_000051 chr11:g.108247060C>T c.998C>T p.S333F RefSeq GRCh38/hg38

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  • 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