Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : firstname.lastname@example.org
|Synonyms||FP793 | RN | RNU2AF1 | U2AF35 | U2AFBP|
|Gene Description||U2AF1, U2 small nuclear RNA auxiliary factor 1, is a 35 kDa subunit splicing factor, that functions in 3' splice site recognition to regulate expression of genes involved in hematological and solid tumor development (PMID: 2963698, PMID: 28986033, PMID: 32303702). U2AF1 is frequently mutated in myelodysplatic syndrome (MDS), chronic myelomonocytic leukemia, atypical CML, acute myeloid leukemia, and lung adenocarcinoma (PMID: 23645565, PMID: 22678168, PMID: 24498085, PMID: 30138727, PMID: 29991672).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|Q157X||missense||unknown||U2AF1 Q157X indicates any U2af1 missense mutation that results in replacement of the glutamine (Q) at amino acid 157 by a different amino acid.|
|R156X||missense||unknown||U2AF1 R156X indicates any U2af1 missense mutation that results in replacement of the arginine (R) at amino acid 156 by a different amino acid.|
|S34X||missense||unknown||U2AF1 S34X indicates any U2af1 missense mutation that results in replacement of the serine (S) at amino acid 34 by a different amino acid.|
|act mut||unknown||gain of function||U2AF1 act mut indicates that this variant results in a gain of function in the U2af1 protein. However, the specific amino acid change has not been identified.|
|inact mut||unknown||loss of function||U2AF1 inact mut indicates that this variant results in a loss of function of the U2af1 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||U2AF1 mutant indicates an unspecified mutation in the U2AF1 gene.|