Disease: leukemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371769427
rs371769427
Entrez Id: 7307
Gene Symbol: U2AF1
U2AF1
CUI: C0023418
Disease:
leukemia 		0.010 GeneticVariation BEFREE Sequencing DNA from the three AMLs revealed somatic mutations homologous to those considered to be drivers of human AML, including predicted loss- or gain-of-function mutations in <i>Tet2</i>, <i>Gata2</i>, <i>Idh1</i>, and <i>Ikzf1</i> However, the engineered <i>U2af1</i>(S34F) missense mutation reverted to WT in two of the three AML cases, implying that <i>U2af1</i>(S34F) is dispensable, or even selected against, once leukemia is established. 30322915 2018