2W5A.A | NEK2

General Structure Information 2w5a NEK2 human nek2 kinase adp-bound 1.55Å AUTH I.WESTWOOD,D.M.CHEARY,J.E.BAXTER,M.W.RICHARDS,AUTH 2 R.L.VAN MONTFORT,A.M.FRY,R.BAYLISSTITL INSIGHTS INTO THE CONFORMATIONAL VARIABILITY ANDTITL 2 REGULATION OF HUMAN NEK2 KINASE.REF J.MOL.BIOL. V. 386 476 2009REFN ISSN 0022-2836PMID 19124027DOI 10.1016/J.JMB.2008.12.033 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3E0J.E | POLD2

General Structure Information 3e0j POLD2 x-ray structure of the complex of regulatory subunits of human dna polymerase delta 3.0Å AUTH A.G.BARANOVSKIY,N.D.BABAYEVA,V.G.LISTON,AUTH 2 I.B.ROGOZIN,E.V.KOONIN,Y.I.PAVLOV,D.G.VASSYLYEV,AUTH 3 T.H.TAHIROVTITL X-RAY STRUCTURE OF THE COMPLEX OF REGULATORYTITL 2 SUBUNITS OF HUMAN DNA POLYMERASE DELTA.REF CELL CYCLE V. 7 3026 2008REFN ISSN 1538-4101PMID 18818516 Variant Set Distributions Mapped Variants

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3LWK.A | CRYBA4

General Structure Information 3lwk CRYBA4 crystal structure of human beta-crystallin a4 (cryba4) 1.7Å AUTH A.CHAIKUAD,N.SHAFQAT,T.KROJER,W.W.YUE,R.COCKING,M.VOLLMAR,AUTH 2 J.R.C.MUNIZ,A.C.W.PIKE,F.VON DELFT,C.H.ARROWSMITH,J.WEIGELT,AUTH 3 A.M.EDWARDS,C.BOUNTRA,U.OPPERMANNTITL CRYSTAL STRUCTURE OF HUMAN BETA-CRYSTALLIN A4 (CRYBA4)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2VXO.B | GMPS

General Structure Information 2vxo GMPS human gmp synthetase in complex with xmp 2.5Å AUTH M.WELIN,L.LEHTIO,A.JOHANSSON,S.FLODIN,T.NYMAN,AUTH 2 L.TRESAUGUES,M.HAMMARSTROM,S.GRASLUND,P.NORDLUNDTITL SUBSTRATE SPECIFICITY AND OLIGOMERIZATION OF HUMANTITL 2 GMP SYNTHETASEREF J.MOL.BIOL. V. 425 4323 2013REFN ISSN 0022-2836PMID 23816837DOI 10.1016/J.JMB.2013.06.032 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3FAY.A | IQGAP1

General Structure Information 3fay IQGAP1 crystal structure of the gap-related domain of iqgap1 2.2Å AUTH V.B.KURELLA,J.M.RICHARD,C.L.PARKE,L.F.LECOUR,AUTH 2 H.D.BELLAMY,D.K.WORTHYLAKETITL CRYSTAL STRUCTURE OF THE GTPASE-ACTIVATINGTITL 2 PROTEIN-RELATED DOMAIN FROM IQGAP1.REF J.BIOL.CHEM. V. 284 14857 2009REFN ISSN 0021-9258PMID 19321438DOI 10.1074/JBC.M808974200 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3EH2.C | SEC24C

General Structure Information 3eh2 SEC24C crystal structure of the human copii-coat protein sec24c 2.35Å AUTH J.D.MANCIAS,J.GOLDBERGTITL STRUCTURAL BASIS OF CARGO MEMBRANE PROTEINTITL 2 DISCRIMINATION BY THE HUMAN COPII COAT MACHINERY.REF EMBO J. V. 27 2918 2008REFN ISSN 0261-4189PMID 18843296DOI 10.1038/EMBOJ.2008.208 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3GUB.A | DAPK1

General Structure Information 3gub DAPK1 crystal structure of dapkl93g complexed with n6-(2- phenylethyl)adenosine 1.71Å AUTH L.K.MCNAMARA,J.S.SCHAVOCKY,D.M.WATTERSON,AUTH 2 J.S.BRUNZELLETITL CRYSTAL STRUCTURES OF THE DAPK GATEKEEPER MUTANTTITL 2 COMPLEXED WITH N6-MODIFIED ADENOSINE ANALOGS.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3ENM.C | MAP2K6

General Structure Information 3enm MAP2K6 the structure of the map2k mek6 reveals an autoinhibitory dimer 2.35Å AUTH X.MIN,R.AKELLA,H.HE,J.M.HUMPHREYS,S.E.TSUTAKAWA,S.J.LEE,AUTH 2 J.A.TAINER,M.H.COBB,E.J.GOLDSMITHTITL THE STRUCTURE OF THE MAP2K MEK6 REVEALS AN AUTOINHIBITORYTITL 2 DIMERREF STRUCTURE V. 17 96 2009REFN ISSN 0969-2126PMID 19141286DOI 10.1016/J.STR.2008.11.007 Variant Set Distributions Mapped Variants

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3FBK.A | RGS3

General Structure Information 3fbk RGS3 crystal structure of the c2 domain of the human regulator of g-protein signaling 3 isoform 6 (rgp3), northeast structural genomics consortium target hr5550a 2.0Å AUTH F.FOROUHAR,S.LEW,J.SEETHARAMAN,L.MAO,R.XIAO,AUTH 2 C.CICCOSANTI,E.L.FOOTE,R.SHASTRY,J.K.EVERETT,AUTH 3 R.NAIR,T.B.ACTON,B.ROST,G.T.MONTELIONE,J.F.HUNT,AUTH 4 L.TONGTITL CRYSTAL STRUCTURE OF THE C2 DOMAIN OF THE HUMANTITL 2 REGULATOR OF G-PROTEIN SIGNALING 3 ISOFORM 6TITL 3 […]

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3II6.X | LIG4

General Structure Information 3ii6 LIG4 structure of human xrcc4 in complex with the tandem brct domains of dna ligaseiv. 2.4Å AUTH P.Y.WU,P.FRIT,S.MEESALA,S.DAUVILLIER,M.MODESTI,AUTH 2 S.N.ANDRES,Y.HUANG,J.SEKIGUCHI,P.CALSOU,B.SALLES,AUTH 3 M.S.JUNOPTITL STRUCTURAL AND FUNCTIONAL INTERACTION BETWEEN THETITL 2 HUMAN DNA REPAIR PROTEINS DNA LIGASE IV AND XRCC4REF MOL.CELL.BIOL. V. 11 3163 2009REFN ISSN 0270-7306PMID 19332554 Variant Set Distributions Ripley’s K […]

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