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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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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A123V missense unknown U2AF1 A123V lies within the RRM domain of the U2af1 protein (UniProt.org). A123V has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
A26V missense unknown U2AF1 A26V lies within the C3H1-type zinc finger region 1 of the U2af1 protein (Uniprot.org). A26V has been identified in sequencing studies (PMID: 23775717), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
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.
D14G missense unknown U2AF1 D14G lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). D14G has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
E184D missense unknown U2AF1 E184D lies within the RS domain of the U2af1 protein (UniProt.org). E184D has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
G106E missense unknown U2AF1 G106E lies within the RRM domain of the U2af1 protein (UniProt.org). G106E has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
G213A missense unknown U2AF1 G213A lies within the RS domain of the U2af1 protein (UniProt.org). G213A has been identified in sequencing studies (PMID: 23775717), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
G217I missense unknown U2AF1 G217I lies within the RS domain of the U2af1 protein (UniProt.org). G217I has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
G217S missense unknown U2AF1 G217S lies within the RS domain of the U2af1 protein (UniProt.org). G217S has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
G218dup duplication unknown U2AF1 G218dup indicates the insertion of the duplicate amino acid, glycine (G)-218, in the RS domain of the U2af1 protein (UniProt.org). G218dup has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
I24T missense loss of function - predicted U2AF1 I24T lies within the interface between zinc fingers of the U2af1 protein (PMID: 26215567). I24T may confer a loss of function to the U2af1 protein as demonstrated by loss of RNA binding affinity (PMID: 26215567).
I24V missense unknown U2AF1 I24V lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). I24V has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
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.
K191N missense unknown U2AF1 K191N lies within the RS domain of the U2af1 protein (UniProt.org). K191N has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
mutant unknown unknown U2AF1 mutant indicates an unspecified mutation in the U2AF1 gene.
N38H missense unknown U2AF1 N38H lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). N38H has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
P139L missense unknown U2AF1 P139L lies within the RRM domain of the U2af1 protein (UniProt.org). P139L has not been characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
Q138* nonsense unknown U2AF1 Q138* results in a premature truncation of the U2af1 protein at amino acid 138 of 240 (UniProt.org). Q138* has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
Q157P missense gain of function U2AF1 Q157P is a hotspot mutation (PMID: 28986033) that lies within the C3H1-type zinc finger region 2 of the U2af1 protein (UniProt.org). Q157P confers a gain of function to the U2af1 protein as indicated by increased exon skipping and aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 25311244).
Q157R missense gain of function U2AF1 Q157R is a hotspot mutation (PMID: 28986033) that lies within the C3H1-type zinc finger region 2 of the U2af1 protein (UniProt.org). Q157R confers a gain of function to the U2af1 protein as indicated by increased exon skipping and aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 25311244).
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.
R156H missense unknown U2AF1 R156H lies within the C3H1-type zinc finger region 2 of the U2af1 protein (UniProt.org). R156H has been identified in sequencing studies (PMID: 29057546), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
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.
R182Q missense unknown U2AF1 R182Q lies within the RS domain of the U2af1 protein (UniProt.org). R182Q has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R188H missense unknown U2AF1 R188H lies within the RS domain of the U2af1 protein (UniProt.org). R188H has been identified in sequencing studies (PMID: 22895193, PMID: 27276561), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R190H missense unknown U2AF1 R190H lies within the RS domain of the U2af1 protein (UniProt.org). R190H has been identified in sequencing studies (PMID: 28584132), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R194S missense unknown U2AF1 R194S lies within the RS domain of the U2af1 protein (UniProt.org). R194S has been identified in sequencing studies (PMID: 28584132), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R198Q missense unknown U2AF1 R198Q lies within the RS domain of the U2af1 protein (UniProt.org). R198Q has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R209H missense unknown U2AF1 R209H lies within the RS domain of the U2af1 protein (UniProt.org). R209H has been identified in sequencing studies (PMID: 24686850), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R229K missense unknown U2AF1 R229K lies within the RS domain of the U2af1 protein (UniProt.org). R229K has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R234C missense unknown U2AF1 R234C lies within the RS domain of the U2af1 protein (UniProt.org). R234C has not been characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R239* nonsense unknown U2AF1 R239* results in a premature truncation of the U2af1 protein at amino acid 239 of 240 (UniProt.org). R239* has not been characterized in the scientific literature and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R28H missense unknown U2AF1 R28H lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). R28H has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
R35L missense gain of function - predicted U2AF1 R35L lies within the C3H1-type zinc finger domain 1 of the U2af1 protein (UniProt.org). R35L is predicted to lead to a gain of U2af1 protein function as indicated by aberrant splicing of downstream target genes in cell culture (PMID: 27602765).
S231L missense unknown U2AF1 S231L lies within the RS domain of the U2af1 protein (UniProt.org). S231L has been identified in sequencing studies (PMID: 26249178), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
S34F missense gain of function U2AF1 S34F lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). S34F confers a gain of function to the U2af1 protein as indicated by aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 28436936), ectopic expression, and promotion of cell proliferation in culture (PMID: 29991672), and results in impaired translational repression as demonstrated by increased protein expression compared to wild-type U2af1 in cultured cells (PMID: 30842218).
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.
S34Y missense gain of function U2AF1 S34Y lies within the C3H1-type zinc finger region 1 of the U2af1 protein (UniProt.org). S34Y confers a gain of function to the U2af1 protein as indicated by increased aberrant splicing of U2af1 target genes in cell culture (PMID: 25267526, PMID: 25311244).
T148M missense unknown U2AF1 T148M does not lie within any known functional domains of the U2af1 protein (UniProt.org). T148M has been identified in sequencing studies (PMID: 24686850), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
V115I missense unknown U2AF1 V115I lies within the RRM domain of the U2af1 protein (UniProt.org). V115I has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on U2af1 protein function is unknown (PubMed, Apr 2020).
wild-type none no effect Wild-type U2AF1 indicates that no mutation has been detected within the U2AF1 gene.