Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene U2AF1
Variant S34F
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions 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).
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Transcript NM_006758
gDNA chr21:g.43104346G>A
cDNA c.101C>T
Protein p.S34F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017028468 chr21:g.43104346G>A c.101C>T p.S34F RefSeq GRCh38/hg38
NM_006758 chr21:g.43104346G>A c.101C>T p.S34F RefSeq GRCh38/hg38
NM_001025203 chr21:g.43104346G>A c.101C>T p.S34F RefSeq GRCh38/hg38
XM_011529743 chr21:g.43104346G>A c.101C>T p.S34F RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
U2AF1 S34F acute myeloid leukemia sensitive E7107 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cells harboring U2AF1 S34F were sensitive to E7107 in cell culture (PMID: 28067246). 28067246
U2AF1 S34F lung cancer sensitive H3B-8800 Preclinical - Cell line xenograft Actionable In a preclinical study, H3B-8800 preferentially inhibited growth of lung cancer cells harboring U2AF1 S34F compared to U2AF1 wild-type cells in culture and in cell line xenograft models (Cancer Res 2017;77(13 Suppl):Abstract nr 1185). detail...
U2AF1 S34F acute myeloid leukemia sensitive Indisulam Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line engineered to express U2AF1 S34F from the endogenous locus demonstrated increased sensitivity to Indisulam (E7070) induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
U2AF1 S34F acute myeloid leukemia sensitive Sudemycin D6 Preclinical Actionable In a preclinical study, Sudemycin D6 treatment induced cell cycle arrest and growth inhibition in acute myeloid leukemia cell lines expressing U2AF1 S34F in culture, and inhibited progenitor cells expansion in transgenic mouse models (PMID: 28067246). 28067246
U2AF1 S34F acute myeloid leukemia sensitive E7820 Preclinical - Cell culture Actionable In a preclinical study, an acute myeloid leukemia cell line engineered to express U2AF1 S34F from the endogenous locus demonstrated increased sensitivity to E7820 induced growth inhibition compared to parental cells in culture (PMID: 30799057). 30799057
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
U2AF1 S34X myelodysplastic syndrome not applicable N/A Guideline Prognostic U2AF1 S34X is associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
U2AF1 mutant myelofibrosis not applicable N/A Guideline Prognostic U2AF1 mutations are associated with inferior overall survival in patients with primary myelofibrosis (NCCN.org). detail...
U2AF1 mutant essential thrombocythemia not applicable N/A Guideline Prognostic The presence of at least one mutation in either SH2B3, IDH2, U2AF1, SRSF2, SF3B1, EZH2, TP53, or RUNX1 is associated with inferior overall survival in patients with essential thrombocythemia, RUNX1 mutations are also associated with inferior leukemia-free survival (NCCN.org). detail...
U2AF1 mutant myelodysplastic syndrome not applicable N/A Clinical Study Emerging In multiple clinical studies, the presence of U2AF1 mutations was associated with a trend toward risk of progression to acute myeloid leukemia, however, the prognostic significance of U2AF1 mutations is still unclear (PMID: 25465125, PMID: 22158538, PMID: 22389253). 22158538 22389253 25465125
U2AF1 mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic U2AF1 mutations are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
U2AF1 mutant acute myeloid leukemia predicted - sensitive GSK3203591 Preclinical - Patient cell culture Actionable In a preclinical study, patient-derived acute myeloid leukemia cell lines harboring mutations in U2AF1 (n=3), SRSF2 (n=9), or SF3B1 (n=4) demonstrated increased sensitivity to GSK3203591 compared to spliceosomal wild-type cell lines in culture (PMID: 31408619). 31408619
Molecular Profile Protein Effect Treatment Approaches
U2AF1 S34F gain of function