Gene Variant Detail

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Gene ATR
Variant C347*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions ATR C347* results in a premature truncation of the Atr protein at amino acid 347 of 2644 (UniProt.org). Due to the loss of the PI3K/PI4K domain and the FATC domain (UniProt.org), C347* is predicted to lead to a loss of Atr protein function.
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR inact mut ATR C347*

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Transcript NM_001184.4
gDNA chr3:g.142562361G>T
cDNA c.1041C>A
Protein p.C347*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512925.2 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512925 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_017006643 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448362.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001354579.2 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001184 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512924 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512926 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001354579.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.142562361G>T c.1041C>A p.C347* RefSeq GRCh38/hg38
XM_011512925.1 chr3:g.142562361G>T c.1041C>A p.C347* 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.
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Molecular Profile Protein Effect Treatment Approaches
ATR C347* loss of function - predicted