Varaico: Literature-Extracted Genetic Variants

Gene:GATA1
Variant:p.L230F
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GATA1

NM_002049.4:p.L230F

Associated Papers

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

Vasudevan HN et al.

Jama Network Open, 2023

37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1

X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.

Yu C et al.

Blood, 2002

Distinct roles for the two cGATA-1 finger domains.

Yang HY et al.

Molecular and Cellular Biology, 1992

Transcriptional activation and DNA binding by the erythroid factor GF-1/NF-E1/Eryf 1.

Martin DI et al.

Genes & Development, 1990

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."