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100 records found for search term Pla2g4e
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15186258CV730989single nucleotide variantNM_001206670.1(PLA2G4E):c.183+4T>Cnot provided [RCV000886926]benign154205051742050517Humanname
405656622CV3376055single nucleotide variantNM_001206670.1(PLA2G4E):c.22G>A (p.Gly8Ser)not specified [RCV004511526]uncertain significance154205068242050682Humanname
401858577CV2762804single nucleotide variantNM_001206670.1(PLA2G4E):c.71C>T (p.Thr24Met)not specified [RCV004340355]uncertain significance154205063342050633Humanname
401859266CV2783468single nucleotide variantNM_001206670.1(PLA2G4E):c.55C>T (p.Pro19Ser)not specified [RCV004365810]uncertain significance154205064942050649Humanname
597725327CV3569699single nucleotide variantNM_001395548.1(PLA2G4E):c.97G>A (p.Glu33Lys)not specified [RCV004842289]uncertain significance154201375742013757Humanname
598169595CV4000254single nucleotide variantNM_001206670.1(PLA2G4E):c.87C>A (p.Ser29Arg)not specified [RCV005392108]uncertain significance154205061742050617Humanname
598205920CV4000259single nucleotide variantNM_001206670.1(PLA2G4E):c.44A>C (p.Asn15Thr)not specified [RCV005399542]uncertain significance154205066042050660Humanname
155901108CV2241915single nucleotide variantNM_001395548.1(PLA2G4E):c.245C>A (p.Ser82Tyr)not specified [RCV004106826]uncertain significance154200779042007790Humanname
156196912CV2293512single nucleotide variantNM_001206670.1(PLA2G4E):c.163A>G (p.Met55Val)not specified [RCV004153047]uncertain significance154205054142050541Humanname
401755412CV2732815single nucleotide variantNM_001395548.1(PLA2G4E):c.139C>T (p.Arg47Trp)not specified [RCV004332617]uncertain significance154201371542013715Humanname
405656594CV3376046single nucleotide variantNM_001206670.1(PLA2G4E):c.107G>C (p.Ser36Thr)not specified [RCV004511517]uncertain significance154205059742050597Humanname
407470621CV3460690single nucleotide variantNM_001395548.1(PLA2G4E):c.151G>A (p.Val51Ile)not specified [RCV004661975]uncertain significance154201370342013703Humanname
407470617CV3460691single nucleotide variantNM_001395548.1(PLA2G4E):c.259C>T (p.Pro87Ser)not specified [RCV004661976]uncertain significance154200777642007776Humanname
407518570CV3460692single nucleotide variantNM_001395548.1(PLA2G4E):c.112T>C (p.Cys38Arg)not specified [RCV004651046]uncertain significance154201374242013742Humanname
597725401CV3569710single nucleotide variantNM_001395548.1(PLA2G4E):c.133G>T (p.Val45Phe)not specified [RCV004842298]uncertain significance154201372142013721Humanname
15202438CV703183single nucleotide variantNM_001395548.1(PLA2G4E):c.2130C>T (p.Thr710=)not provided [RCV000957915]benign154198460541984605Humanname
15147504CV714430single nucleotide variantNM_001395548.1(PLA2G4E):c.1449C>T (p.Ile483=)not provided [RCV000967353]benign154199017041990170Humanname
15186255CV726054single nucleotide variantNM_001395548.1(PLA2G4E):c.155G>A (p.Arg52Gln)not provided [RCV000886925]benign154201369942013699Humanname
156248871CV2222044single nucleotide variantNM_001395548.1(PLA2G4E):c.547G>A (p.Val183Ile)not specified [RCV004103028]uncertain significance154200119642001196Humanname
155969358CV2244518single nucleotide variantNM_001395548.1(PLA2G4E):c.629C>T (p.Thr210Ile)not specified [RCV004100472]uncertain significance154200024042000240Humanname
155967880CV2265819single nucleotide variantNM_001395548.1(PLA2G4E):c.329G>A (p.Cys110Tyr)not specified [RCV004126432]uncertain significance154200609942006099Humanname
155903417CV2301637single nucleotide variantNM_001395548.1(PLA2G4E):c.344T>G (p.Val115Gly)not specified [RCV004162540]uncertain significance154200608442006084Humanname
155978120CV2338932single nucleotide variantNM_001395548.1(PLA2G4E):c.782G>A (p.Arg261His)not specified [RCV004184522]likely benign154199998441999984Humanname
155978296CV2338967single nucleotide variantNM_001395548.1(PLA2G4E):c.635G>A (p.Arg212His)not specified [RCV004184555]uncertain significance154200023442000234Humanname
156103765CV2352399single nucleotide variantNM_001395548.1(PLA2G4E):c.568C>T (p.Arg190Trp)not specified [RCV004200866]uncertain significance154200117542001175Humanname
156247328CV2357048single nucleotide variantNM_001395548.1(PLA2G4E):c.323G>C (p.Ser108Thr)not specified [RCV004206851]uncertain significance154200610542006105Humanname
156342753CV2368616single nucleotide variantNM_001395548.1(PLA2G4E):c.434C>T (p.Pro145Leu)not specified [RCV004221395]uncertain significance154200599442005994Humanname
156188299CV2375329single nucleotide variantNM_001395548.1(PLA2G4E):c.811G>A (p.Asp271Asn)not specified [RCV004232731]uncertain significance154199995541999955Humanname
329373193CV2434138single nucleotide variantNM_001395548.1(PLA2G4E):c.806C>A (p.Pro269His)not specified [RCV004250034]uncertain significance154199996041999960Humanname
329381081CV2440634single nucleotide variantNM_001395548.1(PLA2G4E):c.700C>A (p.His234Asn)not specified [RCV004256544]uncertain significance154200016942000169Humanname
401764671CV2705195single nucleotide variantNM_001395548.1(PLA2G4E):c.964G>A (p.Val322Met)not specified [RCV004310080]uncertain significance154199718341997183Humanname
401783010CV2716086single nucleotide variantNM_001395548.1(PLA2G4E):c.520G>C (p.Val174Leu)not specified [RCV004323331]uncertain significance154200265642002656Humanname
401891226CV2779141single nucleotide variantNM_001395548.1(PLA2G4E):c.641G>C (p.Arg214Pro)not specified [RCV004349058]uncertain significance154200022842000228Humanname
405656632CV3376058single nucleotide variantNM_001395548.1(PLA2G4E):c.299G>A (p.Arg100Gln)not specified [RCV004511529]likely benign154200773642007736Humanname
405656639CV3376060single nucleotide variantNM_001395548.1(PLA2G4E):c.310G>A (p.Val104Met)not specified [RCV004511531]uncertain significance154200611842006118Humanname
405656642CV3376061single nucleotide variantNM_001395548.1(PLA2G4E):c.401G>A (p.Arg134Gln)not specified [RCV004511532]uncertain significance154200602742006027Humanname
405656646CV3376062single nucleotide variantNM_001395548.1(PLA2G4E):c.440G>A (p.Gly147Asp)not specified [RCV004511533]uncertain significance154200497742004977Humanname
405656650CV3376063single nucleotide variantNM_001395548.1(PLA2G4E):c.544G>A (p.Glu182Lys)not specified [RCV004511534]uncertain significance154200119942001199Humanname
405656652CV3376064single nucleotide variantNM_001395548.1(PLA2G4E):c.554C>G (p.Ala185Gly)not specified [RCV004511535]uncertain significance154200118942001189Humanname
405656656CV3376065single nucleotide variantNM_001395548.1(PLA2G4E):c.823G>A (p.Asp275Asn)not specified [RCV004511536]uncertain significance154199994341999943Humanname
407518573CV3460694single nucleotide variantNM_001395548.1(PLA2G4E):c.511G>A (p.Gly171Ser)not specified [RCV004651047]uncertain significance154200266542002665Humanname
597725302CV3569696single nucleotide variantNM_001395548.1(PLA2G4E):c.640C>T (p.Arg214Trp)not specified [RCV004842286]uncertain significance154200022942000229Humanname
597725319CV3569698single nucleotide variantNM_001395548.1(PLA2G4E):c.775C>T (p.Arg259Cys)not specified [RCV004842288]likely benign154199999141999991Humanname
597767790CV3569706single nucleotide variantNM_001395548.1(PLA2G4E):c.702C>A (p.His234Gln)not specified [RCV004850555]uncertain significance154200016742000167Humanname
597725384CV3569708single nucleotide variantNM_001395548.1(PLA2G4E):c.988G>T (p.Val330Leu)not specified [RCV004842296]uncertain significance154199715941997159Humanname
598169601CV4000256single nucleotide variantNM_001395548.1(PLA2G4E):c.904G>A (p.Val302Met)not specified [RCV005392109]uncertain significance154199724341997243Humanname
598169605CV4000257single nucleotide variantNM_001395548.1(PLA2G4E):c.316G>C (p.Glu106Gln)not specified [RCV005392110]uncertain significance154200611242006112Humanname
598205926CV4000260single nucleotide variantNM_001395548.1(PLA2G4E):c.781C>T (p.Arg261Cys)not specified [RCV005399543]uncertain significance154199998541999985Humanname
15200196CV703184single nucleotide variantNM_001395548.1(PLA2G4E):c.789G>C (p.Lys263Asn)not provided [RCV000957260]benign154199997741999977Humanname
15200200CV703185single nucleotide variantNM_001395548.1(PLA2G4E):c.550C>T (p.His184Tyr)not provided [RCV000957261]benign154200119342001193Humanname
10411811CV205477single nucleotide variantNM_001395548.1(PLA2G4E):c.1630A>G (p.Met544Val)Abnormality of neuronal migration [RCV000201370]pathogenic|benign154198942141989421Human1name
156365206CV2193151single nucleotide variantNM_001395548.1(PLA2G4E):c.1529G>A (p.Gly510Asp)not specified [RCV004071149]uncertain significance154198952241989522Humanname
156078464CV2198311single nucleotide variantNM_001395548.1(PLA2G4E):c.2317G>A (p.Glu773Lys)not specified [RCV004081863]uncertain significance154198395741983957Humanname
155981101CV2212180single nucleotide variantNM_001395548.1(PLA2G4E):c.2282G>A (p.Arg761Gln)not specified [RCV004089075]likely benign154198445341984453Humanname
156332585CV2220708single nucleotide variantNM_001395548.1(PLA2G4E):c.2270A>G (p.Asn757Ser)not specified [RCV004097880]uncertain significance154198446541984465Humanname
156388004CV2221685single nucleotide variantNM_001395548.1(PLA2G4E):c.1180C>T (p.Arg394Cys)not specified [RCV004098454]uncertain significance154199294041992940Humanname
156034648CV2246534single nucleotide variantNM_001395548.1(PLA2G4E):c.1390G>A (p.Glu464Lys)not specified [RCV004110288]uncertain significance154199022941990229Humanname
155951605CV2264122single nucleotide variantNM_001395548.1(PLA2G4E):c.1562A>T (p.Glu521Val)not specified [RCV004136282]uncertain significance154198948941989489Humanname
155904105CV2282360single nucleotide variantNM_001395548.1(PLA2G4E):c.2476G>A (p.Ala826Thr)not specified [RCV004133182]uncertain significance154198379841983798Humanname
156101558CV2291376single nucleotide variantNM_001395548.1(PLA2G4E):c.1321G>A (p.Gly441Ser)not specified [RCV004162062]uncertain significance154199279941992799Humanname
155917826CV2332888single nucleotide variantNM_001395548.1(PLA2G4E):c.1522G>A (p.Glu508Lys)not specified [RCV004192149]uncertain significance154198952941989529Humanname
155903162CV2353532single nucleotide variantNM_001395548.1(PLA2G4E):c.1303C>T (p.Arg435Trp)not specified [RCV004199516]uncertain significance154199281741992817Humanname
156177314CV2374512single nucleotide variantNM_001395548.1(PLA2G4E):c.1381G>C (p.Glu461Gln)not specified [RCV004232015]uncertain significance154199273941992739Humanname
156191120CV2385154single nucleotide variantNM_001395548.1(PLA2G4E):c.2217G>A (p.Met739Ile)not specified [RCV004228410]uncertain significance154198451841984518Humanname
156169569CV2400493single nucleotide variantNM_001395548.1(PLA2G4E):c.1858C>T (p.Arg620Trp)not specified [RCV004246692]uncertain significance154198726241987262Humanname
329361463CV2447148single nucleotide variantNM_001395548.1(PLA2G4E):c.1853C>T (p.Thr618Ile)not specified [RCV004260409]uncertain significance154198726741987267Humanname
401725531CV2697450single nucleotide variantNM_001395548.1(PLA2G4E):c.2030A>G (p.Asn677Ser)not specified [RCV004304197]uncertain significance154198592441985924Humanname
401876259CV2789233single nucleotide variantNM_001395548.1(PLA2G4E):c.2077A>G (p.Ile693Val)not specified [RCV004365266]uncertain significance154198587741985877Humanname
405656597CV3376047single nucleotide variantNM_001395548.1(PLA2G4E):c.1034T>G (p.Ile345Arg)not specified [RCV004511518]uncertain significance154199548641995486Humanname
405656601CV3376048single nucleotide variantNM_001395548.1(PLA2G4E):c.1385G>T (p.Arg462Ile)not specified [RCV004511519]uncertain significance154199023441990234Humanname
405656602CV3376049single nucleotide variantNM_001395548.1(PLA2G4E):c.1394G>A (p.Cys465Tyr)not specified [RCV004511520]uncertain significance154199022541990225Humanname
405656607CV3376050single nucleotide variantNM_001395548.1(PLA2G4E):c.1598T>C (p.Val533Ala)not specified [RCV004511521]uncertain significance154198945341989453Humanname
405656609CV3376051single nucleotide variantNM_001395548.1(PLA2G4E):c.1754C>T (p.Pro585Leu)not specified [RCV004511522]uncertain significance154198736641987366Humanname
405656613CV3376052single nucleotide variantNM_001395548.1(PLA2G4E):c.2035A>T (p.Ser679Cys)not specified [RCV004511523]uncertain significance154198591941985919Humanname
405656616CV3376053single nucleotide variantNM_001395548.1(PLA2G4E):c.2071G>A (p.Asp691Asn)not specified [RCV004511524]uncertain significance154198588341985883Humanname
405656619CV3376054single nucleotide variantNM_001395548.1(PLA2G4E):c.2146G>A (p.Val716Met)not specified [RCV004511525]uncertain significance154198458941984589Humanname
405656626CV3376056single nucleotide variantNM_001395548.1(PLA2G4E):c.2224C>G (p.Pro742Ala)not specified [RCV004511527]uncertain significance154198451141984511Humanname
405656629CV3376057single nucleotide variantNM_001395548.1(PLA2G4E):c.2470C>T (p.Arg824Trp)not specified [RCV004511528]uncertain significance154198380441983804Humanname
407470625CV3460688single nucleotide variantNM_001395548.1(PLA2G4E):c.1576G>A (p.Glu526Lys)not specified [RCV004661974]uncertain significance154198947541989475Humanname
407512851CV3460689single nucleotide variantNM_001395548.1(PLA2G4E):c.2498T>C (p.Leu833Pro)not specified [RCV004648565]uncertain significance154198377641983776Humanname
407470613CV3460693single nucleotide variantNM_001395548.1(PLA2G4E):c.1142G>T (p.Gly381Val)not specified [RCV004661977]uncertain significance154199537841995378Humanname
407470608CV3460695single nucleotide variantNM_001395548.1(PLA2G4E):c.1014G>T (p.Gln338His)not specified [RCV004661978]uncertain significance154199713341997133Humanname
597725294CV3569695single nucleotide variantNM_001395548.1(PLA2G4E):c.2337G>C (p.Gln779His)not specified [RCV004842285]uncertain significance154198393741983937Humanname
597725311CV3569697single nucleotide variantNM_001395548.1(PLA2G4E):c.1591C>T (p.Arg531Trp)not specified [RCV004842287]uncertain significance154198946041989460Humanname
597725336CV3569700single nucleotide variantNM_001395548.1(PLA2G4E):c.2330A>C (p.Gln777Pro)not specified [RCV004842290]uncertain significance154198394441983944Humanname
597767786CV3569701single nucleotide variantNM_001395548.1(PLA2G4E):c.1109T>C (p.Leu370Pro)not specified [RCV004850554]uncertain significance154199541141995411Humanname
597725345CV3569702single nucleotide variantNM_001395548.1(PLA2G4E):c.1141G>A (p.Gly381Ser)not specified [RCV004842291]uncertain significance154199537941995379Humanname
597725362CV3569704single nucleotide variantNM_001395548.1(PLA2G4E):c.2095T>A (p.Cys699Ser)not specified [RCV004842293]uncertain significance154198585941985859Humanname
597725372CV3569705single nucleotide variantNM_001395548.1(PLA2G4E):c.1376G>C (p.Gly459Ala)not specified [RCV004842294]uncertain significance154199274441992744Humanname
597725378CV3569707single nucleotide variantNM_001395548.1(PLA2G4E):c.2487G>C (p.Lys829Asn)not specified [RCV004842295]uncertain significance154198378741983787Humanname
597725392CV3569709single nucleotide variantNM_001395548.1(PLA2G4E):c.1895G>A (p.Gly632Glu)not specified [RCV004842297]uncertain significance154198722541987225Humanname
597725410CV3569711single nucleotide variantNM_001395548.1(PLA2G4E):c.1547C>T (p.Ala516Val)not specified [RCV004842299]uncertain significance154198950441989504Humanname
597725419CV3569712single nucleotide variantNM_001395548.1(PLA2G4E):c.2131T>A (p.Cys711Ser)not specified [RCV004842300]uncertain significance154198460441984604Humanname
597767794CV3569713single nucleotide variantNM_001395548.1(PLA2G4E):c.1475A>G (p.Asp492Gly)not specified [RCV004850556]uncertain significance154199014441990144Humanname
598205915CV4000255single nucleotide variantNM_001395548.1(PLA2G4E):c.1652T>A (p.Ile551Asn)not specified [RCV005399541]uncertain significance154198814141988141Humanname
598169615CV4000261single nucleotide variantNM_001395548.1(PLA2G4E):c.2245A>C (p.Ile749Leu)not specified [RCV005392112]uncertain significance154198449041984490Humanname
598169619CV4000262single nucleotide variantNM_001395548.1(PLA2G4E):c.1472A>T (p.Asp491Val)not specified [RCV005392113]uncertain significance154199014741990147Humanname
598169623CV4000263single nucleotide variantNM_001395548.1(PLA2G4E):c.1757T>G (p.Ile586Ser)not specified [RCV005392114]uncertain significance154198736341987363Humanname
8635447CV90668single nucleotide variantNM_001206670.1(PLA2G4E):c.1429G>A (p.Asp477Asn)Malignant melanoma [RCV000070766]not provided154199277841992778Humanname
8635448CV90669duplicationNM_001206670.1(PLA2G4E):c.257-2274_257-2273dupGGMalignant melanoma [RCV000070767]not provided154201013842010139Humanname