2W3C.A | USO1

General Structure Information 2w3c USO1 globular head region of the human general vesicular transport factor p115 2.22Å AUTH H.STRIEGL,Y.ROSKE,D.KUMMEL,U.HEINEMANNTITL UNUSUAL ARMADILLO FOLD IN THE HUMAN GENERAL VESICULARTITL 2 TRANSPORT FACTOR P115REF PLOS ONE V. 4 E4656 2009REFN ISSN 1932-6203PMID 19247479DOI 10.1371/JOURNAL.PONE.0004656 Variant Set Distributions Mapped Variants

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2GF0.A | DIRAS1

General Structure Information 2gf0 DIRAS1 the crystal structure of the human diras1 gtpase in the inactive gdp bound state 1.9Å AUTH A.P.TURNBULL,E.PAPAGRIGORIOU,X.YANG,G.SCHOCH,AUTH 2 J.ELKINS,O.GILEADI,E.SALAH,J.BRAY,L.WEN-HWA,AUTH 3 O.FEDOROV,F.E.NIESEN,F.VON DELFT,J.WEIGELT,AUTH 4 A.EDWARDS,C.ARROWSMITH,M.SUNDSTROM,D.DOYLETITL THE CRYSTAL STRUCTURE OF THE HUMAN DIRAS1 GTPASETITL 2 IN THE INACTIVE GDP BOUND STATEREF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3UVH.B | CLIC1

General Structure Information 3uvh CLIC1 crystal structure analysis of e81m mutant of human clic1 1.84Å AUTH D.A.LEGG-ESILVA,S.FANUCCHI,I.A.ACHILONU,M.A.FERNANDES,AUTH 2 S.H.STOYCHEV,H.W.DIRRTITL CRYSTAL STRUCTURE ANALYSIS OF E81M MUTANT OF HUMAN CLIC1REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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3L81.A | AP4M1

General Structure Information 3l81 AP4M1 crystal structure of adaptor protein complex 4 (ap-4) mu4 subunit c- terminal domain, in complex with a sorting peptide from the amyloid precursor protein (app) 1.6Å AUTH P.V.BURGOS,G.A.MARDONES,A.L.ROJAS,L.L.DASILVA,Y.PRABHU,AUTH 2 J.H.HURLEY,J.S.BONIFACINOTITL SORTING OF THE ALZHEIMERS DISEASE AMYLOID PRECURSORTITL 2 PROTEIN MEDIATED BY THE AP-4 COMPLEX.REF DEV.CELL V. 18 425 2010REFN ISSN […]

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4HPF.A | KCNU1

General Structure Information 4hpf KCNU1 structure of the human slo3 gating ring 3.4Å AUTH M.D.LEONETTI,P.YUAN,Y.HSIUNG,R.MACKINNONTITL FUNCTIONAL AND STRUCTURAL ANALYSIS OF THE HUMAN SLO3 PH- ANDTITL 2 VOLTAGE-GATED K+ CHANNEL.REF PROC.NATL.ACAD.SCI.USA V. 109 19274 2012REFN ISSN 0027-8424PMID 23129643DOI 10.1073/PNAS.1215078109 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3GB8.A | XPO1

General Structure Information 3gb8 XPO1 crystal structure of crm1/snurportin-1 complex 2.9Å AUTH X.DONG,A.BISWAS,K.E.SUEL,L.K.JACKSON,R.MARTINEZ,H.GU,AUTH 2 Y.M.CHOOKTITL STRUCTURAL BASIS FOR LEUCINE-RICH NUCLEAR EXPORT SIGNALTITL 2 RECOGNITION BY CRM1.REF NATURE V. 458 1136 2009REFN ISSN 0028-0836PMID 19339969DOI 10.1038/NATURE07975 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2GRY.A | KIF2A

General Structure Information 2gry KIF2A crystal structure of the human kif2 motor domain in complex with adp 2.35Å AUTH J.WANG,Y.SHEN,W.TEMPEL,R.LANDRY,C.H.ARROWSMITH,A.M.EDWARDS,AUTH 2 M.SUNDSTROM,J.WEIGELT,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF THE HUMAN KIF2 MOTOR DOMAIN IN COMPLEXTITL 2 WITH ADPREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3GKH.A | NPC1

General Structure Information 3gkh NPC1 npc1(ntd) 1.81Å AUTH H.J.KWON,L.ABI-MOSLEH,M.L.WANG,J.DEISENHOFER,J.L.GOLDSTEIN,AUTH 2 M.S.BROWN,R.E.INFANTETITL STRUCTURE OF N-TERMINAL DOMAIN OF NPC1 REVEALS DISTINCTTITL 2 SUBDOMAINS FOR BINDING AND TRANSFER OF CHOLESTEROL.REF CELL(CAMBRIDGE,MASS.) V. 137 1213 2009REFN ISSN 0092-8674PMID 19563754DOI 10.1016/J.CELL.2009.03.049 Variant Set Distributions Pathogenic Proximity Analysis Mapped Variants

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2C0J.A | TRAPPC3

General Structure Information 2c0j TRAPPC3 crystal structure of the bet3-trs33 heterodimer 2.2Å AUTH M.-S.KIM,M.-J.YI,K.-H.LEE,J.WAGNER,C.MUNGER,Y.-G.KIM,AUTH 2 M.WHITEWAY,M.CYGLER,B.-H.OH,M.SACHERTITL BIOCHEMICAL AND CRYSTALLOGRAPHIC STUDIES REVEAL A SPECIFICTITL 2 INTERACTION BETWEEN TRAPP SUBUNITS TRS33P AND BET3PREF TRAFFIC V. 6 1183 2005REFN ISSN 1398-9219PMID 16262728DOI 10.1111/J.1600-0854.2005.00352.X Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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