Gene Variant Detail

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Gene U2AF1
Variant D14G
Impact List missense
Protein Effect unknown
Gene Variant Descriptions 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).
Associated Drug Resistance

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Transcript NM_006758
gDNA chr21:g.43107454T>C
cDNA c.41A>G
Protein p.D14G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001025203 chr21:g.43107454T>C c.41A>G p.D14G RefSeq GRCh38/hg38
NM_006758 chr21:g.43107454T>C c.41A>G p.D14G RefSeq GRCh38/hg38
XM_011529743 chr21:g.43107454T>C c.41A>G p.D14G RefSeq GRCh38/hg38
XM_017028468 chr21:g.43107454T>C c.41A>G p.D14G RefSeq GRCh38/hg38

Filtering

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  • 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 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 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 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 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 D14G unknown