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77 records found for search term Ppef2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156266137CV2275453single nucleotide variantNM_006239.3(PPEF2):c.19A>G (p.Thr7Ala)not specified [RCV004135324]uncertain significance47589630775896307Humanname
155987050CV2363757single nucleotide variantNM_006239.3(PPEF2):c.51G>C (p.Glu17Asp)not specified [RCV004218743]uncertain significance47589627575896275Humanname
401768232CV2675179single nucleotide variantNM_006239.3(PPEF2):c.95G>A (p.Arg32His)not specified [RCV004289952]uncertain significance47589193975891939Humanname
405794023CV3366217single nucleotide variantNM_006239.3(PPEF2):c.94C>T (p.Arg32Cys)not specified [RCV004506919]uncertain significance47589194075891940Humanname
598223051CV3893955single nucleotide variantNM_006239.3(PPEF2):c.594G>A (p.Ser198=)not provided [RCV005257198]likely benign47588474675884746Humanname
156318557CV2260706single nucleotide variantNM_006239.3(PPEF2):c.110T>C (p.Leu37Pro)not specified [RCV004125638]uncertain significance47589192475891924Humanname
156289684CV2299380single nucleotide variantNM_006239.3(PPEF2):c.295A>T (p.Met99Leu)not specified [RCV004152680]uncertain significance47589007975890079Humanname
401757483CV2735046single nucleotide variantNM_006239.3(PPEF2):c.125G>A (p.Arg42His)not specified [RCV004333746]uncertain significance47589190975891909Humanname
401855806CV2757473single nucleotide variantNM_006239.3(PPEF2):c.287A>G (p.Asp96Gly)not specified [RCV004340861]uncertain significance47589008775890087Humanname
401928204CV2822589single nucleotide variantNM_006239.3(PPEF2):c.1671G>A (p.Ser557=)not provided [RCV003439351]likely benign47586739875867398Humanname
401928205CV2822590single nucleotide variantNM_006239.3(PPEF2):c.1281C>T (p.Ala427=)not provided [RCV003439352]likely benign47587632675876326Humanname
405794013CV3366214single nucleotide variantNM_006239.3(PPEF2):c.211G>A (p.Asp71Asn)not specified [RCV004506916]uncertain significance47589167875891678Humanname
597757156CV3591086single nucleotide variantNM_006239.3(PPEF2):c.253A>G (p.Thr85Ala)not specified [RCV004848268]uncertain significance47589012175890121Humanname
597757170CV3591089single nucleotide variantNM_006239.3(PPEF2):c.224C>A (p.Pro75His)not specified [RCV004848271]uncertain significance47589166575891665Humanname
598159891CV3901173single nucleotide variantNM_006239.3(PPEF2):c.292G>A (p.Glu98Lys)not specified [RCV005260853]likely benign47589008275890082Humanname
598159913CV3901179single nucleotide variantNM_006239.3(PPEF2):c.142T>A (p.Phe48Ile)not specified [RCV005260859]uncertain significance47589189275891892Humanname
156293731CV2243487single nucleotide variantNM_006239.3(PPEF2):c.496G>T (p.Val166Phe)not specified [RCV004112449]uncertain significance47588825075888250Humanname
156096578CV2294389single nucleotide variantNM_006239.3(PPEF2):c.844A>T (p.Thr282Ser)not specified [RCV004159901]uncertain significance47588301575883015Humanname
156358255CV2318451single nucleotide variantNM_006239.3(PPEF2):c.637G>C (p.Gly213Arg)not specified [RCV004179602]uncertain significance47588470375884703Humanname
156276883CV2328103single nucleotide variantNM_006239.3(PPEF2):c.839T>C (p.Leu280Pro)not specified [RCV004173218]uncertain significance47588302075883020Humanname
155926026CV2348586single nucleotide variantNM_006239.3(PPEF2):c.304T>C (p.Cys102Arg)not specified [RCV004195815]uncertain significance47589007075890070Humanname
401738245CV2676178single nucleotide variantNM_006239.3(PPEF2):c.833T>A (p.Leu278His)not specified [RCV004284396]uncertain significance47588302675883026Humanname
401748442CV2704293single nucleotide variantNM_006239.3(PPEF2):c.431G>A (p.Arg144His)not specified [RCV004311280]uncertain significance47588831575888315Humanname
405794018CV3366216single nucleotide variantNM_006239.3(PPEF2):c.744A>T (p.Leu248Phe)not specified [RCV004506918]uncertain significance47588459675884596Humanname
597757140CV3591083single nucleotide variantNM_006239.3(PPEF2):c.996A>C (p.Arg332Ser)not specified [RCV004848265]uncertain significance47587661175876611Humanname
597757161CV3591087single nucleotide variantNM_006239.3(PPEF2):c.436G>C (p.Val146Leu)not specified [RCV004848269]uncertain significance47588831075888310Humanname
597757165CV3591088single nucleotide variantNM_006239.3(PPEF2):c.680T>C (p.Met227Thr)not specified [RCV004848270]uncertain significance47588466075884660Humanname
8631283CV86443single nucleotide variantNM_006239.2(PPEF2):c.643G>A (p.Asp215Asn)Malignant melanoma [RCV000066534]not provided47588469775884697Humanname
156264136CV2201226single nucleotide variantNM_006239.3(PPEF2):c.1975A>T (p.Thr659Ser)not specified [RCV004077367]uncertain significance47586447375864473Humanname
156326258CV2205645single nucleotide variantNM_006239.3(PPEF2):c.1181T>G (p.Val394Gly)not specified [RCV004082554]uncertain significance47587642675876426Humanname
156247533CV2215346single nucleotide variantNM_006239.3(PPEF2):c.2237G>C (p.Gly746Ala)not specified [RCV004089159]uncertain significance47586069275860692Humanname
156239921CV2235985single nucleotide variantNM_006239.3(PPEF2):c.1901A>T (p.Lys634Met)not specified [RCV004113861]uncertain significance47586620875866208Humanname
155903265CV2274848single nucleotide variantNM_006239.3(PPEF2):c.2164C>T (p.Arg722Cys)not specified [RCV004133046]uncertain significance47586076575860765Humanname
156192512CV2289427single nucleotide variantNM_006239.3(PPEF2):c.1864A>T (p.Met622Leu)not specified [RCV004152380]uncertain significance47586624575866245Humanname
156185743CV2292342single nucleotide variantNM_006239.3(PPEF2):c.1738C>T (p.His580Tyr)not specified [RCV004150154]uncertain significance47586733175867331Humanname
156204272CV2331643single nucleotide variantNM_006239.3(PPEF2):c.2026G>A (p.Glu676Lys)not specified [RCV004184276]uncertain significance47586090375860903Humanname
156204629CV2331699single nucleotide variantNM_006239.3(PPEF2):c.1209G>C (p.Gln403His)not specified [RCV004184328]uncertain significance47587639875876398Humanname
156189656CV2342479single nucleotide variantNM_006239.3(PPEF2):c.2090T>G (p.Ile697Ser)not specified [RCV004194079]uncertain significance47586083975860839Humanname
155988927CV2371877single nucleotide variantNM_006239.3(PPEF2):c.1195G>A (p.Glu399Lys)not specified [RCV004221566]uncertain significance47587641275876412Humanname
156065069CV2376051single nucleotide variantNM_006239.3(PPEF2):c.1681G>A (p.Ala561Thr)not specified [RCV004220292]uncertain significance47586738875867388Humanname
156225079CV2390479single nucleotide variantNM_006239.3(PPEF2):c.1600G>A (p.Val534Met)not specified [RCV004239020]uncertain significance47587207475872074Humanname
156155901CV2393366single nucleotide variantNM_006239.3(PPEF2):c.1893C>G (p.Asn631Lys)not specified [RCV004228869]uncertain significance47586621675866216Humanname
155931389CV2399835single nucleotide variantNM_006239.3(PPEF2):c.1705C>T (p.His569Tyr)not specified [RCV004246784]uncertain significance47586736475867364Humanname
329358702CV2450669single nucleotide variantNM_006239.3(PPEF2):c.1236G>C (p.Glu412Asp)not specified [RCV004267623]uncertain significance47587637175876371Humanname
329361550CV2455717single nucleotide variantNM_006239.3(PPEF2):c.1370C>G (p.Ala457Gly)not specified [RCV004279016]uncertain significance47587326375873263Humanname
329396853CV2468262single nucleotide variantNM_006239.3(PPEF2):c.1517T>C (p.Ile506Thr)not specified [RCV004275824]uncertain significance47587215775872157Humanname
401880165CV2766148single nucleotide variantNM_006239.3(PPEF2):c.1631C>A (p.Thr544Lys)not specified [RCV004340598]uncertain significance47587204375872043Humanname
401876007CV2789263single nucleotide variantNM_006239.3(PPEF2):c.1643G>A (p.Arg548Lys)not specified [RCV004365292]uncertain significance47587203175872031Humanname
405793984CV3366205single nucleotide variantNM_006239.3(PPEF2):c.1000G>A (p.Ala334Thr)not specified [RCV004506907]uncertain significance47587660775876607Humanname
405793987CV3366206single nucleotide variantNM_006239.3(PPEF2):c.1004A>G (p.Asn335Ser)not specified [RCV004506908]uncertain significance47587660375876603Humanname
405793990CV3366207single nucleotide variantNM_006239.3(PPEF2):c.1088C>T (p.Ser363Phe)not specified [RCV004506909]uncertain significance47587651975876519Humanname
405793993CV3366208single nucleotide variantNM_006239.3(PPEF2):c.1166A>G (p.Gln389Arg)not specified [RCV004506910]likely benign47587644175876441Humanname
405793999CV3366210single nucleotide variantNM_006239.3(PPEF2):c.1195G>C (p.Glu399Gln)not specified [RCV004506912]uncertain significance47587641275876412Humanname
405794003CV3366211single nucleotide variantNM_006239.3(PPEF2):c.1282G>A (p.Gly428Arg)not specified [RCV004506913]uncertain significance47587632575876325Humanname
405794006CV3366212single nucleotide variantNM_006239.3(PPEF2):c.1313G>T (p.Trp438Leu)not specified [RCV004506914]uncertain significance47587629475876294Humanname
405794009CV3366213single nucleotide variantNM_006239.3(PPEF2):c.1595A>G (p.His532Arg)not specified [RCV004506915]uncertain significance47587207975872079Humanname
405794015CV3366215single nucleotide variantNM_006239.3(PPEF2):c.2144A>G (p.Asn715Ser)not specified [RCV004506917]uncertain significance47586078575860785Humanname
407529507CV3471338single nucleotide variantNM_006239.3(PPEF2):c.2159C>A (p.Ala720Asp)not specified [RCV004656075]uncertain significance47586077075860770Humanname
407529509CV3471339single nucleotide variantNM_006239.3(PPEF2):c.1345C>G (p.Pro449Ala)not specified [RCV004656076]uncertain significance47587328875873288Humanname
597757114CV3591078single nucleotide variantNM_006239.3(PPEF2):c.2071G>A (p.Asp691Asn)not specified [RCV004848260]uncertain significance47586085875860858Humanname
597757120CV3591079single nucleotide variantNM_006239.3(PPEF2):c.2057C>A (p.Ser686Tyr)not specified [RCV004848261]uncertain significance47586087275860872Humanname
597757130CV3591081single nucleotide variantNM_006239.3(PPEF2):c.2056T>A (p.Ser686Thr)not specified [RCV004848263]uncertain significance47586087375860873Humanname
597757135CV3591082single nucleotide variantNM_006239.3(PPEF2):c.1597A>G (p.Ile533Val)not specified [RCV004848264]uncertain significance47587207775872077Humanname
597757145CV3591084single nucleotide variantNM_006239.3(PPEF2):c.1228A>G (p.Thr410Ala)not specified [RCV004848266]uncertain significance47587637975876379Humanname
597757151CV3591085single nucleotide variantNM_006239.3(PPEF2):c.1126C>T (p.Pro376Ser)not specified [RCV004848267]uncertain significance47587648175876481Humanname
597757175CV3591090single nucleotide variantNM_006239.3(PPEF2):c.1073C>T (p.Pro358Leu)not specified [RCV004848272]uncertain significance47587653475876534Humanname
597757187CV3591092single nucleotide variantNM_006239.3(PPEF2):c.1168G>C (p.Val390Leu)not specified [RCV004848274]uncertain significance47587643975876439Humanname
597757191CV3591093single nucleotide variantNM_006239.3(PPEF2):c.1738C>G (p.His580Asp)not specified [RCV004848275]uncertain significance47586733175867331Humanname
597757196CV3591094single nucleotide variantNM_006239.3(PPEF2):c.1010A>C (p.Lys337Thr)not specified [RCV004848276]likely benign47587659775876597Humanname
598159884CV3901171single nucleotide variantNM_006239.3(PPEF2):c.1456C>T (p.Arg486Cys)not specified [RCV005260851]uncertain significance47587317775873177Humanname
598159888CV3901172single nucleotide variantNM_006239.3(PPEF2):c.2227A>G (p.Lys743Glu)not specified [RCV005260852]uncertain significance47586070275860702Humanname
598159893CV3901174single nucleotide variantNM_006239.3(PPEF2):c.1361G>C (p.Gly454Ala)not specified [RCV005260854]uncertain significance47587327275873272Humanname
598159897CV3901175single nucleotide variantNM_006239.3(PPEF2):c.2170G>C (p.Val724Leu)not specified [RCV005260855]uncertain significance47586075975860759Humanname
598159901CV3901176single nucleotide variantNM_006239.3(PPEF2):c.1856C>T (p.Ala619Val)not specified [RCV005260856]uncertain significance47586625375866253Humanname
598159906CV3901177single nucleotide variantNM_006239.3(PPEF2):c.1292G>A (p.Arg431Gln)not specified [RCV005260857]likely benign47587631575876315Humanname
598159909CV3901178single nucleotide variantNM_006239.3(PPEF2):c.1535A>G (p.Tyr512Cys)not specified [RCV005260858]uncertain significance47587213975872139Humanname
8631282CV86442single nucleotide variantNM_006239.2(PPEF2):c.1078C>T (p.Arg360Trp)Malignant melanoma [RCV000066533]not provided47587652975876529Humanname