Gene Variant Detail

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Gene ATM
Variant R1575H
Impact List missense
Protein Effect no effect
Gene Variant Descriptions ATM R1575H does not lie within any known functional domains of the Atm protein (UniProt.org). R1575H demonstrates phosphorylation of Atm and downstream targets in response to irradiation to similar levels of wild-type protein in culture (PMID: 18573109, PMID: 19431188).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM R1575H

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Transcript NM_000051.4
gDNA chr11:g.108293425G>A
cDNA c.4724G>A
Protein p.R1575H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017017790.3 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017791 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_005271561 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_006718843 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017790 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542840 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542840.3 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_005271562 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017792 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542843 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
NM_000051 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_017017789 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108293425G>A c.4724G>A p.R1575H RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108293425G>A c.4724G>A p.R1575H 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

  • 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