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68 records found for search term Shkbp1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405731972CV3314550single nucleotide variantNM_138392.4(SHKBP1):c.14C>T (p.Ala5Val)not specified [RCV004451135]uncertain significance194057691340576913Humanname
407519183CV3480539single nucleotide variantNM_138392.4(SHKBP1):c.180C>T (p.Thr60=)not specified [RCV004676379]likely benign194057743540577435Humanname
401726316CV2695642single nucleotide variantNM_138392.4(SHKBP1):c.50C>A (p.Pro17His)not specified [RCV004299457]uncertain significance194057694940576949Humanname
156384746CV2231176single nucleotide variantNM_138392.4(SHKBP1):c.275C>A (p.Ser92Tyr)not specified [RCV004094381]uncertain significance194057816840578168Humanname
156021181CV2264431single nucleotide variantNM_138392.4(SHKBP1):c.115T>G (p.Trp39Gly)not specified [RCV004138329]uncertain significance194057725940577259Humanname
156210026CV2304628single nucleotide variantNM_138392.4(SHKBP1):c.249G>T (p.Glu83Asp)not specified [RCV004166518]uncertain significance194057761940577619Humanname
401897874CV2773074single nucleotide variantNM_138392.4(SHKBP1):c.151G>A (p.Gly51Arg)not specified [RCV004351509]uncertain significance194057740640577406Humanname
401868673CV2785073single nucleotide variantNM_138392.4(SHKBP1):c.256C>T (p.Pro86Ser)not specified [RCV004355089]uncertain significance194057762640577626Humanname
405731930CV3314545single nucleotide variantNM_138392.4(SHKBP1):c.101G>T (p.Arg34Leu)not specified [RCV004451130]uncertain significance194057724540577245Humanname
405732031CV3314557single nucleotide variantNM_138392.4(SHKBP1):c.263G>T (p.Gly88Val)not specified [RCV004451142]uncertain significance194057815640578156Humanname
597718481CV3602669single nucleotide variantNM_138392.4(SHKBP1):c.271G>A (p.Gly91Ser)not specified [RCV004861765]uncertain significance194057816440578164Humanname
156312889CV2196432single nucleotide variantNM_138392.4(SHKBP1):c.380A>G (p.Asn127Ser)not specified [RCV004073733]uncertain significance194057852240578522Humanname
155968377CV2312830single nucleotide variantNM_138392.4(SHKBP1):c.698G>A (p.Arg233His)not specified [RCV004171328]uncertain significance194058079040580790Humanname
156117263CV2349454single nucleotide variantNM_138392.4(SHKBP1):c.382G>T (p.Gly128Cys)not specified [RCV004201427]uncertain significance194057852440578524Humanname
156240311CV2350335single nucleotide variantNM_138392.4(SHKBP1):c.460C>T (p.Arg154Trp)not specified [RCV004202282]uncertain significance194058038340580383Humanname
329378837CV2459983single nucleotide variantNM_138392.4(SHKBP1):c.646T>G (p.Cys216Gly)not specified [RCV004279459]uncertain significance194058064940580649Humanname
401873521CV2776514single nucleotide variantNM_138392.4(SHKBP1):c.827G>A (p.Gly276Asp)not specified [RCV004355615]uncertain significance194058091940580919Humanname
401882685CV2778475single nucleotide variantNM_138392.4(SHKBP1):c.556C>T (p.Pro186Ser)not specified [RCV004344139]uncertain significance194058047940580479Humanname
405732039CV3314558single nucleotide variantNM_138392.4(SHKBP1):c.424C>T (p.Arg142Trp)not specified [RCV004451143]uncertain significance194058034740580347Humanname
405732055CV3314560single nucleotide variantNM_138392.4(SHKBP1):c.547C>T (p.Pro183Ser)not specified [RCV004451145]uncertain significance194058047040580470Humanname
405732063CV3314561single nucleotide variantNM_138392.4(SHKBP1):c.695C>T (p.Pro232Leu)not specified [RCV004451146]uncertain significance194058078740580787Humanname
405732071CV3314562single nucleotide variantNM_138392.4(SHKBP1):c.829G>A (p.Gly277Ser)not specified [RCV004451147]likely benign194058092140580921Humanname
405732078CV3314563single nucleotide variantNM_138392.4(SHKBP1):c.943G>A (p.Val315Ile)not specified [RCV004451148]uncertain significance194058244940582449Humanname
597718393CV3602660single nucleotide variantNM_138392.4(SHKBP1):c.527G>A (p.Arg176Gln)not specified [RCV004861756]uncertain significance194058045040580450Humanname
597718413CV3602662single nucleotide variantNM_138392.4(SHKBP1):c.995C>T (p.Ala332Val)not specified [RCV004861758]uncertain significance194058343240583432Humanname
597718463CV3602667single nucleotide variantNM_138392.4(SHKBP1):c.311C>G (p.Thr104Ser)not specified [RCV004861763]uncertain significance194057820440578204Humanname
597718491CV3602670single nucleotide variantNM_138392.4(SHKBP1):c.974A>T (p.Gln325Leu)not specified [RCV004861766]uncertain significance194058341140583411Humanname
598241980CV3914230single nucleotide variantNM_138392.4(SHKBP1):c.862G>A (p.Val288Met)not specified [RCV005276440]uncertain significance194058236840582368Humanname
156027431CV2195477single nucleotide variantNM_138392.4(SHKBP1):c.1877G>A (p.Arg626His)not specified [RCV004082702]uncertain significance194059083840590838Humanname
156370552CV2204238single nucleotide variantNM_138392.4(SHKBP1):c.1547G>A (p.Ser516Asn)not specified [RCV004079076]uncertain significance194058913640589136Humanname
156111723CV2261791single nucleotide variantNM_138392.4(SHKBP1):c.1624A>C (p.Thr542Pro)not specified [RCV004126075]uncertain significance194059027840590278Humanname
156253881CV2264607single nucleotide variantNM_138392.4(SHKBP1):c.1715G>A (p.Ser572Asn)not specified [RCV004132618]uncertain significance194059036940590369Humanname
155949714CV2267704single nucleotide variantNM_138392.4(SHKBP1):c.1939A>G (p.Ser647Gly)not specified [RCV004134241]uncertain significance194059102240591022Humanname
156069719CV2295755single nucleotide variantNM_138392.4(SHKBP1):c.1973G>A (p.Arg658His)not specified [RCV004151686]uncertain significance194059105640591056Humanname
156045299CV2315514single nucleotide variantNM_138392.4(SHKBP1):c.1518G>C (p.Gln506His)not specified [RCV004169565]uncertain significance194058910740589107Humanname
156179282CV2331378single nucleotide variantNM_138392.4(SHKBP1):c.1253C>G (p.Ser418Trp)not specified [RCV004184016]uncertain significance194058686140586861Humanname
155933016CV2372206single nucleotide variantNM_138392.4(SHKBP1):c.1501G>A (p.Gly501Ser)not specified [RCV004216985]uncertain significance194058909040589090Humanname
156390149CV2373110single nucleotide variantNM_138392.4(SHKBP1):c.1378C>T (p.Arg460Cys)not specified [RCV004217802]uncertain significance194058866540588665Humanname
156216286CV2386054single nucleotide variantNM_138392.4(SHKBP1):c.1588C>T (p.Arg530Trp)not specified [RCV004229116]uncertain significance194058917740589177Humanname
329363818CV2442526single nucleotide variantNM_138392.4(SHKBP1):c.1069C>T (p.Arg357Cys)not specified [RCV004266758]uncertain significance194058362140583621Humanname
401770923CV2700765single nucleotide variantNM_138392.4(SHKBP1):c.2009T>C (p.Leu670Pro)not specified [RCV004307051]uncertain significance194059109240591092Humanname
401742745CV2715308single nucleotide variantNM_138392.4(SHKBP1):c.1955A>G (p.Gln652Arg)not specified [RCV004324644]uncertain significance194059103840591038Humanname
401898841CV2782748single nucleotide variantNM_138392.4(SHKBP1):c.1587G>C (p.Gln529His)not specified [RCV004359748]uncertain significance194058917640589176Humanname
405731940CV3314546single nucleotide variantNM_138392.4(SHKBP1):c.1118C>G (p.Ala373Gly)not specified [RCV004451131]uncertain significance194058367040583670Humanname
405731949CV3314547single nucleotide variantNM_138392.4(SHKBP1):c.1273A>G (p.Thr425Ala)not specified [RCV004451132]uncertain significance194058688140586881Humanname
405731956CV3314548single nucleotide variantNM_138392.4(SHKBP1):c.1288C>T (p.Arg430Cys)not specified [RCV004451133]uncertain significance194058689640586896Humanname
405731964CV3314549single nucleotide variantNM_138392.4(SHKBP1):c.1388G>A (p.Gly463Asp)not specified [RCV004451134]uncertain significance194058867540588675Humanname
405731980CV3314551single nucleotide variantNM_138392.4(SHKBP1):c.1513G>A (p.Asp505Asn)not specified [RCV004451136]uncertain significance194058910240589102Humanname
405731997CV3314553single nucleotide variantNM_138392.4(SHKBP1):c.1756G>A (p.Gly586Ser)not specified [RCV004451138]uncertain significance194059041040590410Humanname
405732006CV3314554single nucleotide variantNM_138392.4(SHKBP1):c.1832C>T (p.Ala611Val)not specified [RCV004451139]uncertain significance194059079340590793Humanname
405732018CV3314555single nucleotide variantNM_138392.4(SHKBP1):c.1966C>T (p.Arg656Trp)not specified [RCV004451140]uncertain significance194059104940591049Humanname
405732024CV3314556single nucleotide variantNM_138392.4(SHKBP1):c.2081C>T (p.Pro694Leu)not specified [RCV004451141]uncertain significance194059116440591164Humanname
407519181CV3480536single nucleotide variantNM_138392.4(SHKBP1):c.1781C>T (p.Thr594Met)not specified [RCV004676378]uncertain significance194059074240590742Humanname
407493460CV3480538single nucleotide variantNM_138392.4(SHKBP1):c.1600G>A (p.Val534Met)not specified [RCV004667389]uncertain significance194059025440590254Humanname
407493464CV3480540single nucleotide variantNM_138392.4(SHKBP1):c.1588C>G (p.Arg530Gly)not specified [RCV004667390]uncertain significance194058917740589177Humanname
407493468CV3480541single nucleotide variantNM_138392.4(SHKBP1):c.2078C>G (p.Thr693Ser)not specified [RCV004667391]uncertain significance194059116140591161Humanname
407519185CV3480542single nucleotide variantNM_138392.4(SHKBP1):c.1681C>G (p.Arg561Gly)not specified [RCV004676380]uncertain significance194059033540590335Humanname
407493472CV3480543single nucleotide variantNM_138392.4(SHKBP1):c.2033G>A (p.Arg678Gln)not specified [RCV004667392]uncertain significance194059111640591116Humanname
597718403CV3602661single nucleotide variantNM_138392.4(SHKBP1):c.1604G>A (p.Arg535His)not specified [RCV004861757]uncertain significance194059025840590258Humanname
597718425CV3602663single nucleotide variantNM_138392.4(SHKBP1):c.1603C>T (p.Arg535Cys)not specified [RCV004861759]uncertain significance194059025740590257Humanname
597718444CV3602665single nucleotide variantNM_138392.4(SHKBP1):c.1253C>T (p.Ser418Leu)not specified [RCV004861761]uncertain significance194058686140586861Humanname
597718453CV3602666single nucleotide variantNM_138392.4(SHKBP1):c.1564G>T (p.Val522Leu)not specified [RCV004861762]uncertain significance194058915340589153Humanname
597718471CV3602668single nucleotide variantNM_138392.4(SHKBP1):c.1808A>G (p.Glu603Gly)not specified [RCV004861764]uncertain significance194059076940590769Humanname
598241955CV3914226single nucleotide variantNM_138392.4(SHKBP1):c.2054C>T (p.Pro685Leu)not specified [RCV005276436]uncertain significance194059113740591137Humanname
598241961CV3914227single nucleotide variantNM_138392.4(SHKBP1):c.1269C>A (p.Phe423Leu)not specified [RCV005276437]uncertain significance194058687740586877Humanname
598241967CV3914228single nucleotide variantNM_138392.4(SHKBP1):c.2047C>G (p.Pro683Ala)not specified [RCV005276438]uncertain significance194059113040591130Humanname
598241973CV3914229single nucleotide variantNM_138392.4(SHKBP1):c.1978G>T (p.Gly660Trp)not specified [RCV005276439]uncertain significance194059106140591061Humanname
598241983CV3914231single nucleotide variantNM_138392.4(SHKBP1):c.1628C>G (p.Thr543Arg)not specified [RCV005276441]uncertain significance194059028240590282Humanname