Gene Detail


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Gene Symbol U2AF1
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).


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Molecular Profile Protein Effect Treatment Approaches
U2AF1 A123V unknown
U2AF1 A26V unknown
U2AF1 act mut gain of function
U2AF1 D14G unknown
U2AF1 E184D unknown
U2AF1 G106E unknown
U2AF1 G213A unknown
U2AF1 G217I unknown
U2AF1 G217S unknown
U2AF1 G218dup unknown
U2AF1 I24T loss of function - predicted
U2AF1 I24V unknown
U2AF1 inact mut loss of function
U2AF1 K191N unknown
U2AF1 mutant unknown
U2AF1 N38H unknown
U2AF1 P139L unknown
U2AF1 Q138* unknown
U2AF1 Q157P gain of function
U2AF1 Q157R gain of function
U2AF1 Q157X unknown
U2AF1 R156H unknown
U2AF1 R156X unknown
U2AF1 R182Q unknown
U2AF1 R188H unknown
U2AF1 R190H unknown
U2AF1 R194S unknown
U2AF1 R198Q unknown
U2AF1 R209H unknown
U2AF1 R229K unknown
U2AF1 R234C unknown
U2AF1 R239* unknown
U2AF1 R28H unknown
U2AF1 R35L gain of function - predicted
U2AF1 S231L unknown
U2AF1 S34F gain of function
U2AF1 S34X unknown
U2AF1 S34Y gain of function
U2AF1 T148M unknown
U2AF1 V115I unknown
U2AF1 wild-type no effect