4K33.A | FGFR3

General Structure Information 4k33 FGFR3 crystal strucure of fgf receptor 3 (fgfr3) kinase domain harboring the k650e mutation, a gain-of-function mutation responsible for thanatophoric dysplasia type ii and spermatocytic seminoma 2.34Å AUTH Z.HUANG,H.CHEN,S.BLAIS,T.A.NEUBERT,X.LI,M.MOHAMMADITITL STRUCTURAL MIMICRY OF A-LOOP TYROSINE PHOSPHORYLATION BY ATITL 2 PATHOGENIC FGF RECEPTOR 3 MUTATION.REF STRUCTURE V. 21 1889 2013REFN ISSN 0969-2126PMID 23972473DOI […]

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2Y1M.F | CBL

General Structure Information 2y1m CBL structure of native c-cbl 2.67Å AUTH H.DOU,L.BUETOW,A.HOCK,G.J.SIBBET,K.H.VOUSDEN,D.T.HUANGTITL STRUCTURAL BASIS FOR AUTOINHIBITION AND PHOSPHORYLATION-TITL 2 DEPENDENT ACTIVATION OF C-CBL.REF NAT.STRUCT.MOL.BIOL. V. 19 184 2012REFN ISSN 1545-9993PMID 22266821DOI 10.1038/NSMB.2231 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3RGH.A | FLNA

General Structure Information 3rgh FLNA structure of filamin a immunoglobulin-like repeat 10 from homo sapiens 2.44Å AUTH R.C.PAGE,J.G.CLARK,S.MISRATITL STRUCTURE OF FILAMIN A IMMUNOGLOBULIN-LIKE REPEAT 10 FROMTITL 2 HOMO SAPIENS.REF ACTA CRYSTALLOGR.,SECT.F V. 67 871 2011REFN ESSN 1744-3091PMID 21821884DOI 10.1107/S1744309111024249 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Mapped Variants

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2E9W.D | KITLG

General Structure Information 2e9w KITLG crystal structure of the extracellular domain of kit in complex with stem cell factor (scf) 3.5Å AUTH S.YUZAWA,Y.OPATOWSKY,Z.ZHANG,V.MANDIYAN,I.LAX,J.SCHLESSINGERTITL STRUCTURAL BASIS FOR ACTIVATION OF THE RECEPTOR TYROSINETITL 2 KINASE KIT BY STEM CELL FACTORREF CELL(CAMBRIDGE,MASS.) V. 130 323 2007REFN ISSN 0092-8674PMID 17662946DOI 10.1016/J.CELL.2007.05.055 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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3QD6.D | CD40LG

General Structure Information 3qd6 CD40LG crystal structure of the cd40 and cd154 (cd40l) complex 3.5Å AUTH H.-J.AN,Y.J.KIM,D.H.SONG,B.S.PARK,H.M.KIM,J.D.LEE,S.-G.PAIK,AUTH 2 J.-O.LEE,H.LEETITL CRYSTALLOGRAPHIC AND MUTATIONAL ANALYSIS OF THE CD40-CD154TITL 2 COMPLEX AND ITS IMPLICATIONS FOR RECEPTOR ACTIVATIONREF J.BIOL.CHEM. V. 286 11226 2011REFN ISSN 0021-9258PMID 21285457DOI 10.1074/JBC.M110.208215 Variant Set Distributions Mapped Variants

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4HC7.A | GATA3

General Structure Information 4hc7 GATA3 crystal structure of the full dna binding domain of gata3-complex 2 2.65Å AUTH Y.CHEN,D.L.BATES,R.DEY,P.H.CHEN,A.C.MACHADO,AUTH 2 I.A.LAIRD-OFFRINGA,R.ROHS,L.CHENTITL DNA BINDING BY GATA TRANSCRIPTION FACTOR SUGGESTS MECHANISMSTITL 2 OF DNA LOOPING AND LONG-RANGE GENE REGULATION.REF CELL REP V. 2 1197 2012REFN ESSN 2211-1247PMID 23142663DOI 10.1016/J.CELREP.2012.10.012 Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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1APY.B | AGA

General Structure Information 1apy AGA human aspartylglucosaminidase 2.0Å AUTH C.OINONEN,R.TIKKANEN,J.ROUVINEN,L.PELTONENTITL THREE-DIMENSIONAL STRUCTURE OF HUMAN LYSOSOMALTITL 2 ASPARTYLGLUCOSAMINIDASE.REF NAT.STRUCT.BIOL. V. 2 1102 1995REFN ISSN 1072-8368PMID 8846222DOI 10.1038/NSB1295-1102 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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1APY.A | AGA

General Structure Information 1apy AGA human aspartylglucosaminidase 2.0Å AUTH C.OINONEN,R.TIKKANEN,J.ROUVINEN,L.PELTONENTITL THREE-DIMENSIONAL STRUCTURE OF HUMAN LYSOSOMALTITL 2 ASPARTYLGLUCOSAMINIDASE.REF NAT.STRUCT.BIOL. V. 2 1102 1995REFN ISSN 1072-8368PMID 8846222DOI 10.1038/NSB1295-1102 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1IVH.A | IVD

General Structure Information 1ivh IVD structure of human isovaleryl-coa dehydrogenase at 2.6 angstroms resolution: structural basis for substrate specificity 2.6Å AUTH K.A.TIFFANY,D.L.ROBERTS,M.WANG,R.PASCHKE,AUTH 2 A.W.MOHSEN,J.VOCKLEY,J.J.KIMTITL STRUCTURE OF HUMAN ISOVALERYL-COA DEHYDROGENASE ATTITL 2 2.6 A RESOLUTION: STRUCTURAL BASIS FOR SUBSTRATETITL 3 SPECIFICITY,.REF BIOCHEMISTRY V. 36 8455 1997REFN ISSN 0006-2960PMID 9214289DOI 10.1021/BI970422U Variant Set Distributions Ripley’s K Analysis […]

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3W1W.A | FECH

General Structure Information 3w1w FECH protein-drug complex 2.01Å AUTH V.GUPTA,S.LIU,H.ANDO,R.ISHII,S.TATENO,Y.KANEKO,M.YUGAMI,AUTH 2 S.SAKAMOTO,Y.YAMAGUCHI,O.NUREKI,H.HANDATITL SALICYLIC ACID INDUCES MITOCHONDRIAL INJURY BY INHIBITINGTITL 2 FERROCHELATASE HEME BIOSYNTHESIS ACTIVITYREF MOL.PHARMACOL. V. 84 824 2013REFN ISSN 0026-895XPMID 24043703DOI 10.1124/MOL.113.087940 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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