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Variants search result for Homo sapiens
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51 records found for search term Rapgef5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401925627CV2828345single nucleotide variantNM_012294.5(RAPGEF5):c.870+6A>Tnot provided [RCV003436680]likely benign72223084022230840Humanname
8590725CV125434single nucleotide variantNM_012294.3(RAPGEF5):c.1548+315G>ALung cancer [RCV000105953]uncertain significance72214658222146582Humanname
156255219CV2219635single nucleotide variantNM_012294.5(RAPGEF5):c.808G>A (p.Asp270Asn)not specified [RCV004093744]uncertain significance72223090822230908Humanname
156147953CV2265240single nucleotide variantNM_012294.5(RAPGEF5):c.857T>A (p.Val286Asp)not specified [RCV004126350]uncertain significance72223085922230859Humanname
155976430CV2342770single nucleotide variantNM_012294.5(RAPGEF5):c.830A>G (p.His277Arg)not specified [RCV004189814]uncertain significance72223088622230886Humanname
155933968CV2372371single nucleotide variantNM_012294.5(RAPGEF5):c.467T>C (p.Ile156Thr)not specified [RCV004217138]uncertain significance72231001322310013Humanname
329400071CV2440479single nucleotide variantNM_012294.5(RAPGEF5):c.662G>A (p.Arg221Lys)not specified [RCV004256408]uncertain significance72230835722308357Humanname
329393612CV2453467single nucleotide variantNM_012294.5(RAPGEF5):c.763G>A (p.Ala255Thr)not specified [RCV004267068]uncertain significance72226699722266997Humanname
401756098CV2686290single nucleotide variantNM_012294.5(RAPGEF5):c.910G>A (p.Gly304Arg)not specified [RCV004297374]uncertain significance72221995222219952Humanname
401775357CV2692347single nucleotide variantNM_012294.5(RAPGEF5):c.882G>T (p.Met294Ile)not specified [RCV004310330]uncertain significance72221998022219980Humanname
401863087CV2780228single nucleotide variantNM_012294.5(RAPGEF5):c.866C>G (p.Ser289Cys)not specified [RCV004355868]uncertain significance72223085022230850Humanname
405659242CV3312140single nucleotide variantNM_012294.5(RAPGEF5):c.883T>C (p.Cys295Arg)not specified [RCV004438460]uncertain significance72221997922219979Humanname
405659245CV3312141single nucleotide variantNM_012294.5(RAPGEF5):c.994C>G (p.His332Asp)not specified [RCV004438461]uncertain significance72221986822219868Humanname
597705584CV3592863single nucleotide variantNM_012294.5(RAPGEF5):c.950A>G (p.Tyr317Cys)not specified [RCV004860415]likely benign72221991222219912Humanname
598183424CV3905445single nucleotide variantNM_012294.5(RAPGEF5):c.914G>A (p.Arg305Gln)not specified [RCV005265598]uncertain significance72221994822219948Humanname
8632519CV87727single nucleotide variantNM_012294.3(RAPGEF5):c.905C>T (p.Ser302Phe)Malignant melanoma [RCV000067819]not provided72216246122162461Humanname
153000409CV1685553single nucleotide variantNM_012294.5(RAPGEF5):c.2431C>T (p.His811Tyr)Dilated cardiomyopathy 1A [RCV002259540]likely pathogenic72213108722131087Human2name
155925583CV2230468single nucleotide variantNM_012294.5(RAPGEF5):c.1100C>T (p.Ala367Val)not specified [RCV004097444]uncertain significance72219393022193930Humanname
156150913CV2307515single nucleotide variantNM_012294.5(RAPGEF5):c.1515G>T (p.Met505Ile)not specified [RCV004166162]uncertain significance72216052922160529Humanname
156289510CV2324811single nucleotide variantNM_012294.5(RAPGEF5):c.2323T>A (p.Leu775Ile)not specified [RCV004173042]uncertain significance72213693822136938Humanname
156168849CV2337322single nucleotide variantNM_012294.5(RAPGEF5):c.1333C>T (p.Arg445Cys)not specified [RCV004187775]likely benign72216249222162492Humanname
155922916CV2340705single nucleotide variantNM_012294.5(RAPGEF5):c.2576A>G (p.Tyr859Cys)not specified [RCV004190376]uncertain significance72212248222122482Humanname
155914381CV2341986single nucleotide variantNM_012294.5(RAPGEF5):c.1159C>T (p.Leu387Phe)not specified [RCV004184927]uncertain significance72219341222193412Humanname
156401901CV2371138single nucleotide variantNM_012294.5(RAPGEF5):c.1994A>G (p.Asn665Ser)not specified [RCV004220886]uncertain significance72214691022146910Humanname
156157242CV2378690single nucleotide variantNM_012294.5(RAPGEF5):c.1038C>G (p.Asp346Glu)not specified [RCV004231157]likely benign72219399222193992Humanname
156262608CV2391602single nucleotide variantNM_012294.5(RAPGEF5):c.1919G>A (p.Arg640Lys)not specified [RCV004603428]uncertain significance72214698522146985Humanname
401751702CV2672548single nucleotide variantNM_012294.5(RAPGEF5):c.1319A>T (p.Asn440Ile)not specified [RCV004287583]uncertain significance72216250622162506Humanname
401729818CV2683807single nucleotide variantNM_012294.5(RAPGEF5):c.1648G>A (p.Val550Met)not specified [RCV004284536]uncertain significance72215459322154593Humanname
401720486CV2701919single nucleotide variantNM_012294.5(RAPGEF5):c.1522C>T (p.Arg508Cys)not specified [RCV004320530]uncertain significance72216052222160522Humanname
401768619CV2716674single nucleotide variantNM_012294.5(RAPGEF5):c.1109A>G (p.His370Arg)not specified [RCV004327730]uncertain significance72219392122193921Humanname
401877253CV2764558single nucleotide variantNM_012294.5(RAPGEF5):c.1739A>G (p.Gln580Arg)not specified [RCV004339113]uncertain significance72215450222154502Humanname
401893995CV2773579single nucleotide variantNM_012294.5(RAPGEF5):c.2504G>A (p.Arg835Gln)not specified [RCV004355985]uncertain significance72212563622125636Humanname
401892270CV2776039single nucleotide variantNM_012294.5(RAPGEF5):c.2182G>A (p.Ala728Thr)not specified [RCV004353148]uncertain significance72214504822145048Humanname
401896431CV2781337single nucleotide variantNM_012294.5(RAPGEF5):c.1406A>G (p.Glu469Gly)not specified [RCV004352350]uncertain significance72216241922162419Humanname
401877438CV2790170single nucleotide variantNM_012294.5(RAPGEF5):c.1589A>G (p.Lys530Arg)not specified [RCV004364097]uncertain significance72215685722156857Humanname
405050530CV3081557single nucleotide variantNM_012294.5(RAPGEF5):c.2258G>A (p.Arg753Gln)not provided [RCV003740550]uncertain significance72214004422140044Humanname
405659229CV3312136single nucleotide variantNM_012294.5(RAPGEF5):c.1631A>C (p.Glu544Ala)not specified [RCV004438456]uncertain significance72215681522156815Humanname
405659232CV3312137single nucleotide variantNM_012294.5(RAPGEF5):c.1793A>G (p.His598Arg)not specified [RCV004438457]uncertain significance72215049822150498Humanname
405659235CV3312138single nucleotide variantNM_012294.5(RAPGEF5):c.1849A>G (p.Ile617Val)not specified [RCV004438458]uncertain significance72215044222150442Humanname
405659239CV3312139single nucleotide variantNM_012294.5(RAPGEF5):c.2295T>G (p.Phe765Leu)not specified [RCV004438459]uncertain significance72213696622136966Humanname
405659248CV3312142single nucleotide variantNM_012294.5(RAPGEF5):c.1018G>A (p.Val340Ile)not specified [RCV004438462]uncertain significance72219401222194012Humanname
405659251CV3312143single nucleotide variantNM_012294.5(RAPGEF5):c.1022A>G (p.Gln341Arg)not specified [RCV004438463]uncertain significance72219400822194008Humanname
405659254CV3312144single nucleotide variantNM_012294.5(RAPGEF5):c.1334G>A (p.Arg445His)not specified [RCV004438464]uncertain significance72216249122162491Humanname
597783493CV3592860single nucleotide variantNM_012294.5(RAPGEF5):c.1120G>A (p.Val374Met)not specified [RCV004854275]uncertain significance72219345122193451Humanname
597783497CV3592862single nucleotide variantNM_012294.5(RAPGEF5):c.2483A>G (p.His828Arg)not specified [RCV004854276]uncertain significance72212565722125657Humanname
597705594CV3592864single nucleotide variantNM_012294.5(RAPGEF5):c.1439G>A (p.Arg480Lys)not specified [RCV004860416]uncertain significance72216060522160605Humanname
598183404CV3905442single nucleotide variantNM_012294.5(RAPGEF5):c.1954C>T (p.Leu652Phe)not specified [RCV005265595]uncertain significance72214695022146950Humanname
598183411CV3905443single nucleotide variantNM_012294.5(RAPGEF5):c.1021C>G (p.Gln341Glu)not specified [RCV005265596]uncertain significance72219400922194009Humanname
598183418CV3905444single nucleotide variantNM_012294.5(RAPGEF5):c.1628C>T (p.Thr543Met)not specified [RCV005265597]uncertain significance72215681822156818Humanname
598183431CV3905446single nucleotide variantNM_012294.5(RAPGEF5):c.2375T>A (p.Met792Lys)not specified [RCV005265599]uncertain significance72213607922136079Humanname
598183445CV3905448single nucleotide variantNM_012294.5(RAPGEF5):c.1199A>G (p.Glu400Gly)not specified [RCV005265601]uncertain significance72219337222193372Humanname