1JM7.B | BARD1

General Structure Information 1jm7 BARD1 solution structure of the brca1/bard1 ring-domain heterodimer -1.0Å AUTH P.S.BRZOVIC,P.RAJAGOPAL,D.W.HOYT,M.C.KING,AUTH 2 R.E.KLEVITTITL STRUCTURE OF A BRCA1-BARD1 HETERODIMERIC RING-RINGTITL 2 COMPLEX.REF NAT.STRUCT.BIOL. V. 8 833 2001REFN ISSN 1072-8368PMID 11573085DOI 10.1038/NSB1001-833 Variant Set Distributions Mapped Variants

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2KAV.A | SCN2A

General Structure Information 2kav SCN2A solution structure of the human voltage-gated sodium channel, brain isoform (nav1.2) -1.0Å AUTH V.Z.MILOUSHEV,J.A.LEVINE,M.A.ARBING,J.F.HUNT,G.S.PITT,AUTH 2 A.G.PALMERTITL SOLUTION STRUCTURE OF THE NAV1.2 C-TERMINAL EF-HAND DOMAIN.REF J.BIOL.CHEM. V. 284 6446 2009REFN ISSN 0021-9258PMID 19129176DOI 10.1074/JBC.M807401200 Variant Set Distributions Mapped Variants

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3CUQ.C | VPS25

General Structure Information 3cuq VPS25 integrated structural and functional model of the human escrt-ii complex 2.61Å AUTH Y.J.IM,J.H.HURLEYTITL INTEGRATED STRUCTURAL MODEL AND MEMBRANE TARGETING MECHANISMTITL 2 OF THE HUMAN ESCRT-II COMPLEXREF DEV.CELL V. 14 902 2008REFN ISSN 1534-5807PMID 18539118DOI 10.1016/J.DEVCEL.2008.04.004 Variant Set Distributions Mapped Variants

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3IHW.A | AGAP3

General Structure Information 3ihw AGAP3 crystal structure of the ras-like domain of centg3 1.92Å AUTH L.NEDYALKOVA,W.TEMPEL,Y.TONG,Y.LI,C.H.ARROWSMITH,AUTH 2 A.M.EDWARDS,C.BOUNTRA,J.WEIGELT,A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF THE RAS-LIKE DOMAIN OF CENTG3REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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4IM6.A | NLRP1

General Structure Information 4im6 NLRP1 lrr domain from human nlrp1 1.65Å Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2REP.A | KIFC1

General Structure Information 2rep KIFC1 crystal structure of the motor domain of human kinesin family member c1 2.6Å AUTH H.ZHU,W.TEMPEL,H.HE,Y.SHEN,J.WANG,G.BROTHERS,R.LANDRY,AUTH 2 C.H.ARROWSMITH,A.M.EDWARDS,M.SUNDSTROM,J.WEIGELT,AUTH 3 A.BOCHKAREV,H.PARKTITL CRYSTAL STRUCTURE OF THE MOTOR DOMAIN OF HUMAN KINESINTITL 2 FAMILY MEMBER C1.REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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1YHN.B | RILP

General Structure Information 1yhn RILP structure basis of rilp recruitment by rab7 3.0Å AUTH M.WU,T.WANG,E.LOH,W.HONG,H.SONGTITL STRUCTURAL BASIS FOR RECRUITMENT OF RILP BY SMALL GTPASETITL 2 RAB7.REF EMBO J. V. 24 1491 2005REFN ISSN 0261-4189PMID 15933719DOI 10.1038/SJ.EMBOJ.7600643 Variant Set Distributions Mapped Variants

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1V88.A | OSBPL8

General Structure Information 1v88 OSBPL8 solution structure of the pleckstrin homology domain of oxysterol-binding protein-related protein 8 (kiaa1451 protein) -1.0Å AUTH H.LI,T.TOMIZAWA,S.KOSHIBA,M.INOUE,T.KIGAWA,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE PLECKSTRIN HOMOLOGYTITL 2 DOMAIN OF OXYSTEROL-BINDING PROTEIN-RELATEDTITL 3 PROTEIN 8 (KIAA1451 PROTEIN)REF TO BE PUBLISHEDREFN Variant Set Distributions Mapped Variants

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2YUD.A | YTHDC1

General Structure Information 2yud YTHDC1 solution structure of the yth domain in yth domain- containing protein 1 (putative splicing factor yt521) -1.0Å AUTH F.HE,Y.MUTO,M.INOUE,T.KIGAWA,M.SHIROUZU,T.TARADA,AUTH 2 S.YOKOYAMATITL SOLUTION STRUCTURE OF THE YTH DOMAIN IN YTHTITL 2 DOMAIN-CONTAINING PROTEIN 1 (PUTATIVE SPLICINGTITL 3 FACTOR YT521)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set […]

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4B91.A | DPYSL5

General Structure Information 4b91 DPYSL5 crystal structure of truncated human crmp-5 1.7Å AUTH R.PONNUSAMY,B.LOHKAMPTITL INSIGHTS INTO THE OLIGOMERIZATION OF CRMPS: CRYSTALTITL 2 STRUCTURE OF HUMAN COLLAPSIN RESPONSE MEDIATOR PROTEIN 5.REF J.NEUROCHEM. V. 125 855 2013REFN ISSN 0022-3042PMID 23373749DOI 10.1111/JNC.12188 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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