KEGG   VARIANT: 56259v1
Entry
56259v1                      Variant                               
Name
CTNNBL1 mutaiton
Type
Loss of function
Gene
CTNNBL1  catenin beta like 1 [KO:K12864]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611537
Network
nt06547  Spliceosome
Disease
H02526  Disorders of adaptive immunity
Reference
  Authors
Kuhny M, Forbes LR, Cakan E, Vega-Loza A, Kostiuk V, Dinesh RK, Glauzy S, Stray-Pedersen A, Pezzi AE, Hanson IC, Vargas-Hernandez A, Xu ML, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Chinn IK, Schatz DG, Orange JS, Meffre E
  Title
Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID.
  Journal
J Clin Invest 130:4411-4422 (2020)
DOI:10.1172/JCI131297
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