Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.K2440R
Back to variants list

ATM

NM_000051.4:p.K2440R

Associated Papers

Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.

Sagna T et al.

Biomolecular Concepts, 2019

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Mariani LL et al.

Scientific Reports, 2017

29127364 (PubMed )
Supplement: 41598_2017_15127_MOESM1_ESM.doc

Activating mutations of TOR (target of rapamycin).

Hardt M et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."