KEGG   VARIANT: 11338v1
Entry
11338v1                      Variant                               
Name
U2AF2 mutation
Type
Loss of function
Gene
U2AF2  U2 small nuclear RNA auxiliary factor 2 [KO:K12837]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191318
Network
nt06547  Spliceosome
Disease
H02993  Developmental delay, dysmorphic facies, and brain anomalies
Reference
PMID:34112922
  Authors
Hiraide T, Tanaka T, Masunaga Y, Ohkubo Y, Nakashima M, Fukuda T, Ogata T, Saitsu H
  Title
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
  Journal
J Hum Genet 66:1185-1187 (2021)
DOI:10.1038/s10038-021-00948-4
LinkDB

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