Gene Variant Detail

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Gene U2AF1
Variant A123V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions 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).
Associated Drug Resistance

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Transcript NM_006758
gDNA chr21:g.43094769G>A
cDNA c.368C>T
Protein p.A123V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001025203 chr21:g.43094769G>A c.368C>T p.A123V RefSeq GRCh38/hg38
NM_006758 chr21:g.43094769G>A c.368C>T p.A123V 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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
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 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...
Molecular Profile Protein Effect Treatment Approaches
U2AF1 A123V unknown