RecName: Full=Endothelial PAS domain-containing protein 1; Short=EPAS- - Protein

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Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders. [Sci Adv. 2024]
Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.
Lawrence ES, Gu W, Bohlender RJ, Anza-Ramirez C, Cole AM, Yu JJ, Hu H, Heinrich EC, O'Brien KA, Vasquez CA, et al. Sci Adv. 2024 Feb 9; 10(6):eadj5661. Epub 2024 Feb 9.
EPAS1-mutated paragangliomas associated with haemoglobin disorders. [Br J Haematol. 2024]
EPAS1-mutated paragangliomas associated with haemoglobin disorders.
Mancini M, Buffet A, Porte B, Amar L, Lussey-Lepoutre C, Crinière L, Baudin E, Meatchi T, Gimenez-Roqueplo AP, Favier J, et al. Br J Haematol. 2024 Mar; 204(3):1054-1060. Epub 2024 Jan 9.
Hypoxia-inducible factor 2α protein and mRNA expression correlate with histomorphological features in clear cell renal cell carcinoma. [Pathol Res Pract. 2023]
Hypoxia-inducible factor 2α protein and mRNA expression correlate with histomorphological features in clear cell renal cell carcinoma.
Pham T, Ohe C, Yoshida T, Nakamoto T, Kinoshita H, Tsuta K. Pathol Res Pract. 2023 Nov; 251:154841. Epub 2023 Oct 2.

RefSeq genomic sequence
See the genomic reference sequence for the EPAS1 gene (NG_016000.1).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the EPAS1 gene.

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Q99814 [Domain Mapping of Disease Mut...]
Q99814
Domain Mapping of Disease Mutations
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Endothelial PAS domain-containing protein 1; Short=EPAS-1; AltName...
RecName: Full=Endothelial PAS domain-containing protein 1; Short=EPAS-1; AltName: Full=Basic-helix-loop-helix-PAS protein MOP2; AltName: Full=Class E basic helix-loop-helix protein 73; Short=bHLHe73; AltName: Full=HIF-1-alpha-like factor; Short=HLF; AltName: Full=Hypoxia-inducible factor 2-alpha; Short=HIF-2-alpha; Short=HIF2-alpha; AltName: Full=Member of PAS protein 2; AltName: Full=PAS domain-containing protein 2
gi|32470617|sp|Q99814.3|EPAS1_HUMAN

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