KEGG   VARIANT: 472v1
Entry
472v1                      Variant                                 
Name
ATM mutation
Type
Loss of function
Gene
ATM  ATM serine/threonine kinase [KO:K04728]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607585
Network
nt06506  Double-strand break repair
Disease
H00005  Chronic lymphocytic leukemia
H00064  Ataxia telangiectasia
Reference
  Authors
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE
  Title
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
  Journal
Ann Neurol 85:170-180 (2019)
DOI:10.1002/ana.25394
Reference
PMID:9887333
  Authors
Sandoval N, Platzer M, Rosenthal A, Dork T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D
  Title
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
  Journal
Hum Mol Genet 8:69-79 (1999)
DOI:10.1093/hmg/8.1.69
LinkDB

DBGET integrated database retrieval system