2WL1.A | MEFV

General Structure Information 2wl1 MEFV pyrin pryspry domain 1.35Å AUTH C.WEINERT,C.GRUETTER,H.ROSCHITZKI-VOSER,P.R.MITTL,AUTH 2 M.G.GRUETTERTITL THE CRYSTAL STRUCTURE OF HUMAN PYRIN B30.2 DOMAIN:TITL 2 IMPLICATIONS FOR MUTATIONS ASSOCIATED WITHTITL 3 FAMILIAL MEDITERRANEAN FEVER.REF J.MOL.BIOL. V. 394 226 2009REFN ISSN 0022-2836PMID 19729025DOI 10.1016/J.JMB.2009.08.059 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2VAF.A | CASQ2

General Structure Information 2vaf CASQ2 crystal structure of human cardiac calsequestrin 3.8Å AUTH E.KIM,B.YOUN,L.KEMPER,C.CAMPBELL,H.MILTING,AUTH 2 M.VARSANYI,C.KANGTITL CHARACTERIZATION OF HUMAN CARDIAC CALSEQUESTRINTITL 2 AND ITS DELETERIOUS MUTANTS.REF J.MOL.BIOL. V. 373 1047 2007REFN ISSN 0022-2836PMID 17881003DOI 10.1016/J.JMB.2007.08.055 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2R5T.A | SGK1

General Structure Information 2r5t SGK1 crystal structure of inactive serum and glucocorticoid- regulated kinase 1 in complex with amp-pnp 1.9Å AUTH B.ZHAO,R.LEHR,A.M.SMALLWOOD,T.F.HO,K.MALEY,AUTH 2 T.RANDALL,M.S.HEAD,K.K.KORETKE,C.G.SCHNACKENBERGTITL CRYSTAL STRUCTURE OF THE KINASE DOMAIN OF SERUMTITL 2 AND GLUCOCORTICOID-REGULATED KINASE 1 IN COMPLEXTITL 3 WITH AMP PNP.REF PROTEIN SCI. V. 16 2761 2007REFN ISSN 0961-8368PMID 17965184DOI 10.1110/PS.073161707 Variant Set […]

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3MTT.A | PIK3R2

General Structure Information 3mtt PIK3R2 crystal structure of ish2 domain of human p85beta, northeast structural genomics consortium target hr5531c 3.3Å AUTH C.SCHAUDER,L.C.MA,R.M.KRUG,G.T.MONTELIONE,R.GUANTITL STRUCTURE OF THE ISH2 DOMAIN OF HUMAN PHOSPHATIDYLINOSITOLTITL 2 3-KINASE P85BETA SUBUNIT REVEALS CONFORMATIONAL PLASTICITYTITL 3 IN THE INTERHELICAL TURN REGIONREF ACTA CRYSTALLOGR.,SECT.F V. 66 1567 2010REFN ESSN 1744-3091PMID 21139197DOI 10.1107/S1744309110041333 Variant Set […]

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1UF0.A | DCLK1

General Structure Information 1uf0 DCLK1 solution structure of the n-terminal dcx domain of human doublecortin-like kinase -1.0Å AUTH K.SAITO,T.KIGAWA,S.KOSHIBA,M.INOUE,S.YOKOYAMATITL SOLUTION STRUCTURE OF THE N-TERMINAL DCX DOMAIN OFTITL 2 HUMAN DOUBLECORTIN-LIKE KINASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2YDJ.B | CHEK1

General Structure Information 2ydj CHEK1 discovery of checkpoint kinase inhibitor azd7762 by structure based design and optimization of thiophene carboxamide ureas 1.85Å AUTH V.OZA,S.ASHWELL,L.ALMEIDA,P.BRASSIL,J.BREED,C.DENG,T.GERO,AUTH 2 M.GRONDINE,C.HORN,S.IOANNIDIS,D.LIU,P.LYNE,N.NEWCOMBE,AUTH 3 M.PASS,J.A.READ,S.READY,S.ROWSELL,M.SU,D.TOADER,M.VASBINDER,AUTH 4 D.YU,Y.YU,Y.XUE,S.ZABLUDOFF,J.JANETKATITL DISCOVERY OF CHECKPOINT KINASE INHIBITOR (S)-5-(3-TITL 2 FLUOROPHENYL)-N-(PIPERIDIN-3-YL)-3-UREIDOTHIOPHENE-2-TITL 3 CARBOXAMIDE (AZD7762) BY STRUCTURE-BASED DESIGN ANDTITL 4 OPTIMIZATION OF THIOPHENECARBOXAMIDE UREAS.REF J.MED.CHEM. V. 55 5130 2012REFN […]

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3O35.A | TRIM24

General Structure Information 3o35 TRIM24 crystal structure of trim24 phd-bromo complexed with h3(23-31)k27ac peptide 1.76Å AUTH W.W.TSAI,Z.WANG,T.T.YIU,K.C.AKDEMIR,W.XIA,S.WINTER,C.Y.TSAI,AUTH 2 X.SHI,D.SCHWARZER,W.PLUNKETT,B.ARONOW,O.GOZANI,W.FISCHLE,AUTH 3 M.C.HUNG,D.J.PATEL,M.C.BARTONTITL TRIM24 LINKS A NON-CANONICAL HISTONE SIGNATURE TO BREASTTITL 2 CANCER.REF NATURE V. 468 927 2010REFN ISSN 0028-0836PMID 21164480DOI 10.1038/NATURE09542 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2CQ3.A | RBFOX2

General Structure Information 2cq3 RBFOX2 solution structure of rna binding domain in rna binding motif protein 9 -1.0Å AUTH K.TSUDA,Y.MUTO,M.INOUE,T.KIGAWA,T.TERADA,AUTH 2 M.SHIROUZU,S.YOKOYAMATITL SOLUTION STRUCTURE OF RNA BINDING DOMAIN IN RNATITL 2 BINDING MOTIF PROTEIN 9REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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4GQB.A | PRMT5

General Structure Information 4gqb PRMT5 crystal structure of the human prmt5:mep50 complex 2.06Å AUTH S.ANTONYSAMY,Z.BONDAY,R.M.CAMPBELL,B.DOYLE,Z.DRUZINA,AUTH 2 T.GHEYI,B.HAN,L.N.JUNGHEIM,Y.QIAN,C.RAUCH,M.RUSSELL,AUTH 3 J.M.SAUDER,S.R.WASSERMAN,K.WEICHERT,F.S.WILLARD,A.ZHANG,AUTH 4 S.EMTAGETITL CRYSTAL STRUCTURE OF THE HUMAN PRMT5:MEP50 COMPLEX.REF PROC.NATL.ACAD.SCI.USA V. 109 17960 2012REFN ISSN 0027-8424PMID 23071334DOI 10.1073/PNAS.1209814109 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3AVR.A | KDM6A

General Structure Information 3avr KDM6A catalytic fragment of utx/kdm6a bound with histone h3k27me3 peptide, n-oxyalylglycine, and ni(ii) 1.8Å AUTH T.SENGOKU,S.YOKOYAMATITL STRUCTURAL BASIS FOR HISTONE H3 LYS 27 DEMETHYLATION BYTITL 2 UTX/KDM6AREF GENES DEV. V. 25 2266 2011REFN ISSN 0890-9369PMID 22002947DOI 10.1101/GAD.172296.111 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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