• Mutation; HGNC; HGNC:882; ATR; Simple; p.Gly674Gly (c.2022A>G) (2101A>G); ClinVar=VCV000008307; Zygosity=Homozygous; Note=Silent mutation that causes increased levels of skipping exon 9 and activation of two cryptic splicing events from sites in exon 9 leading to termination in exon 10 (PubMed=12640452).
  

PubMed=12640452; DOI=10.1038/ng1129
Mark O'Driscoll, Victor L. Ruiz-Perez, C. Geoffrey Woods, Penelope Ann Jeggo, Judith A. Goodship;
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
Nat. Genet. 33:497-501(2003)

PubMed=18077418; DOI=10.1073/pnas.0707579104; PMCID=PMC2148387
Matthew P. Stokes, John Rush, Joan MacNeill, Jian Min Ren, Kam Sprott, Julie Nardone, Vicky Yang, Sean A. Beausoleil, Steven P. Gygi, Mark Livingstone, Hui Zhang ...Show all 13 authors... , Roberto D. Polakiewicz, Michael J. Comb; Show fewer authors
Profiling of UV-induced ATM/ATR signaling pathways.
Proc. Natl. Acad. Sci. U.S.A. 104:19855-19860(2007)

PubMed=19896956; DOI=10.1016/j.mrfmmm.2009.10.013
Paul F. Wilson, Peter B. Nham, Salustra S. Urbin, John M. Hinz, Irene M. Jones, Lawrence H. Thompson;
Inter-individual variation in DNA double-strand break repair in human fibroblasts before and after exposure to low doses of ionizing radiation.
Mutat. Res. 683:91-97(2010)