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Gene ATM
Variant S2592C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM S2592C does not lie within any known functional domains of the Atm protein (UniProt.org). S2592C confers a loss of function to the Atm protein as demonstrated by loss of kinase activity in an in vitro assay and cultured cells, and increased radiosensitivity and radiation-induced chromosome aberrations in cultured cells (PMID: 11805335).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM S2592C

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Transcript NM_000051.4
gDNA chr11:g.108332024C>G
cDNA c.7775C>G
Protein p.S2592C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.2 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108332024C>G c.7775C>G p.S2592C RefSeq GRCh38/hg38

Filtering

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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

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