2V5O.A | IGF2R

General Structure Information 2v5o IGF2R structure of human igf2r domains 11-14 2.91Å AUTH J.BROWN,C.DELAINE,O.J.ZACCHEO,C.SIEBOLD,R.J.GILBERT,AUTH 2 G.VAN BOXEL,A.DENLEY,J.C.WALLACE,A.B.HASSAN,B.E.FORBES,AUTH 3 E.Y.JONESTITL STRUCTURE AND FUNCTIONAL ANALYSIS OF THE IGF-II/IGF2RTITL 2 INTERACTIONREF EMBO J. V. 27 265 2008REFN ISSN 0261-4189PMID 18046459DOI 10.1038/SJ.EMBOJ.7601938 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1HDP.A | POU2F2

General Structure Information 1hdp POU2F2 solution structure of a pou-specific homeodomain: 3d-nmr studies of human b-cell transcription factor oct-2 -1.0Å AUTH M.SIVARAJA,M.C.BOTFIELD,M.MUELLER,A.JANCSO,AUTH 2 M.A.WEISSTITL SOLUTION STRUCTURE OF A POU-SPECIFIC HOMEODOMAIN:TITL 2 3D-NMR STUDIES OF HUMAN B-CELL TRANSCRIPTIONTITL 3 FACTOR OCT-2.REF BIOCHEMISTRY V. 33 9845 1994REFN ISSN 0006-2960PMID 7914745DOI 10.1021/BI00199A005 Variant Set Distributions Mapped Variants

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1YJD.C | CD28

General Structure Information 1yjd CD28 crystal structure of human cd28 in complex with the fab fragment of a mitogenic antibody (5.11a1) 2.7Å AUTH E.J.EVANS,R.M.ESNOUF,R.MANSO-SANCHO,R.J.C.GILBERT,J.R.JAMES,AUTH 2 C.YU,J.A.FENNELLY,C.VOWLES,T.HANKE,B.WALSE,T.HUNIG,AUTH 3 P.SORENSEN,D.I.STUART,S.J.DAVISTITL CRYSTAL STRUCTURE OF A SOLUBLE CD28-FAB COMPLEXREF NAT.IMMUNOL. V. 6 271 2005REFN ISSN 1529-2908PMID 15696168DOI 10.1038/NI1170 Variant Set Distributions Mapped Variants

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1ERV.A | TXN

General Structure Information 1erv TXN human thioredoxin mutant with cys 73 replaced by ser (reduced form) 1.65Å AUTH A.WEICHSEL,J.R.GASDASKA,G.POWIS,W.R.MONTFORTTITL CRYSTAL STRUCTURES OF REDUCED, OXIDIZED, ANDTITL 2 MUTATED HUMAN THIOREDOXINS: EVIDENCE FOR ATITL 3 REGULATORY HOMODIMER.REF STRUCTURE V. 4 735 1996REFN ISSN 0969-2126PMID 8805557DOI 10.1016/S0969-2126(96)00079-2 Variant Set Distributions Mapped Variants

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2DOB.A | PSAP

General Structure Information 2dob PSAP crystal structure of human saposin a 2.0Å AUTH V.E.AHN,P.LEYKO,J.R.ALATTIA,L.CHEN,G.G.PRIVETITL CRYSTAL STRUCTURES OF SAPOSINS A AND C.REF PROTEIN SCI. V. 15 1849 2006REFN ISSN 0961-8368PMID 16823039DOI 10.1110/PS.062256606 Variant Set Distributions Mapped Variants

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3LBX.B | SPTB

General Structure Information 3lbx SPTB crystal structure of the erythrocyte spectrin tetramerization domain complex 2.8Å AUTH J.J.IPSARO,S.L.HARPER,T.E.MESSICK,R.MARMORSTEIN,A.MONDRAGON,AUTH 2 D.W.SPEICHERTITL CRYSTAL STRUCTURE AND FUNCTIONAL INTERPRETATION OF THETITL 2 ERYTHROCYTE SPECTRIN TETRAMERIZATION DOMAIN COMPLEX.REF BLOOD V. 115 4843 2010REFN ISSN 0006-4971PMID 20197550DOI 10.1182/BLOOD-2010-01-261396 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2WNS.A | UMPS

General Structure Information 2wns UMPS human orotate phosphoribosyltransferase (oprtase) domain of uridine 5-monophosphate synthase (umps) in complex with its substrate orotidine 5-monophosphate (omp) 1.9Å AUTH M.MOCHE,A.ROOS,C.H.ARROWSMITH,H.BERGLUND,C.BOUNTRA,AUTH 2 R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,S.GRASLUND,AUTH 3 M.HAMMARSTROM,A.JOHANSSON,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTYENOVA,A.KOTZCH,T.K.NIELSEN,T.NYMAN,C.PERSSON,AUTH 5 J.SAGEMARK,H.SCHUELER,P.SCHUTZ,M.I.SIPONEN,AUTH 6 L.SVENSSON,A.G.THORSELL,L.TRESAUGUES,S.VANDENBERG,AUTH 7 J.WEIGELT,M.WELIN,M.WISNIEWSKA,P.NORDLUNDTITL HUMAN OROTATE PHOSPHORIBOSYLTRANSFERASE (OPRTASE)TITL 2 DOMAIN OF URIDINE 5-MONOPHOSPHATE SYNTHASE (UMPS)TITL 3 IN COMPLEX WITH ITS SUBSTRATE […]

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2C7A.A | PGR

General Structure Information 2c7a PGR structure of the progesterone receptor-dna complex 2.5Å AUTH S.C.ROEMER,D.C.DONHAM,L.SHERMAN,V.H.PON,AUTH 2 D.P.EDWARDS,M.E.A.CHURCHILLTITL STRUCTURE OF THE PROGESTERONE RECEPTOR-TITL 2 DEOXYRIBONUCLEIC ACID COMPLEX: NOVEL INTERACTIONSTITL 3 REQUIRED FOR BINDING TO HALF-SITE RESPONSETITL 4 ELEMENTS.REF MOL.ENDOCRINOL. V. 20 3042 2006REFN ISSN 0888-8809PMID 16931575DOI 10.1210/ME.2005-0511 Variant Set Distributions Mapped Variants

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1OG2.A | CYP2C9

General Structure Information 1og2 CYP2C9 structure of human cytochrome p450 cyp2c9 2.6Å AUTH P.A.WILLIAMS,J.COSME,A.WARD,H.C.ANGOVE,AUTH 2 D.MATAK VINKOVIC,H.JHOTITITL CRYSTAL STRUCTURE OF HUMAN CYTOCHROME P450 2C9TITL 2 WITH BOUND WARFARINREF NATURE V. 424 464 2003REFN ISSN 0028-0836PMID 12861225DOI 10.1038/NATURE01862 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4KMD.B | GLI1

General Structure Information 4kmd GLI1 crystal structure of sufud60-gli1p 1.7Å AUTH Y.ZHANG,L.FU,X.QI,Z.ZHANG,Y.XIA,J.JIA,J.JIANG,Y.ZHAO,G.WUTITL STRUCTURAL INSIGHT INTO THE MUTUAL RECOGNITION ANDTITL 2 REGULATION BETWEEN SUPPRESSOR OF FUSED AND GLI/CI.REF NAT COMMUN V. 4 2608 2013REFN ESSN 2041-1723PMID 24217340DOI 10.1038/NCOMMS3608 Variant Set Distributions Mapped Variants

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