Gene Variant Detail

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Gene ATM
Variant T1743I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM T1743I does not lie within any known functional domains of the Atm protein (UniProt.org). T1743I results in decreased protein expression and reduced phosphorylation of Atm and downstream targets in response to irradiation in culture (PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM T1743I

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Transcript NM_000051.4
gDNA chr11:g.108301698C>T
cDNA c.5228C>T
Protein p.T1743I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000051.4 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
NM_000051 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_011542843 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_005271562 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017791 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_011542840 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017789 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_005271561 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_006718843 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017790 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017792 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108301698C>T c.5228C>T p.T1743I RefSeq GRCh38/hg38

Filtering

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  • 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References