Gene Variant Detail

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Gene ATM
Variant R337S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATM R337S does not lie within any known functional domains of the Atm protein (UniProt.org). R337S confers a loss of function to the Atm protein as demonstrated by reduced phosphorylation of Atm target proteins, Tp53 and Smc1 (PMID: 16014569).
Associated Drug Resistance
Category Variants Paths

ATM mutant ATM inact mut ATM R337S

ATM mutant ATM R337X ATM R337S

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Transcript NM_000051.4
gDNA chr11:g.108247071C>A
cDNA c.1009C>A
Protein p.R337S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011542840.3 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_047426976.1 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
NM_000051 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_011542843.2 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_005271562.6 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
NM_001351834.1 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_005271561 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_005271562 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_006718843 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_011542840 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017791.1 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_006718843.4 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017789 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017789.2 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_011542843 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017792 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_011542843.3 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_005271562.5 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_047426975.1 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_047426981.1 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017790.2 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
NM_000051.4 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
NM_000051.3 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_006718843.5 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_011542840.4 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017790 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017791 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017790.3 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
NM_001351834.2 chr11:g.108247071C>A c.1009C>A p.R337S RefSeq GRCh38/hg38
XM_017017792.2 chr11:g.108247071C>A c.1009C>A p.R337S 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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  • 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