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113 records found for search term Rxfp2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150440175CV1221411single nucleotide variantNM_130806.5(RXFP2):c.*176A>Gnot provided [RCV001610106]benign133180258131802581Humanname
150434871CV1215999single nucleotide variantNM_130806.5(RXFP2):c.569+31T>Cnot provided [RCV001609188]benign133177472231774722Humanname
150435205CV1221586single nucleotide variantNM_130806.5(RXFP2):c.241+15C>Tnot provided [RCV001609274]benign133175841931758419Humanname
150517493CV1226943single nucleotide variantNM_130806.5(RXFP2):c.95-103C>Gnot provided [RCV001640039]benign133175815531758155Humanname
150441697CV1246777single nucleotide variantNM_130806.5(RXFP2):c.95-283T>Cnot provided [RCV001666431]benign133175797531757975Humanname
150478259CV1257117single nucleotide variantNM_130806.5(RXFP2):c.242-21A>Tnot provided [RCV001672347]benign133176170331761703Humanname
150508967CV1284417single nucleotide variantNM_130806.5(RXFP2):c.95-178G>Anot provided [RCV001720525]benign133175808031758080Humanname
15199872CV778023single nucleotide variantNM_130806.5(RXFP2):c.1145+8T>Cnot provided [RCV000957166]benign133178920131789201Humanname
8582766CV117322single nucleotide variantNM_130806.3(RXFP2):c.425+379A>GLung cancer [RCV000097843]uncertain significance133176552131765521Humanname
150463154CV1214745single nucleotide variantNM_130806.5(RXFP2):c.319+102C>Tnot provided [RCV001613739]benign133176190331761903Humanname
150453375CV1219824single nucleotide variantNM_130806.5(RXFP2):c.425+282T>Cnot provided [RCV001612205]benign133176542431765424Humanname
150437104CV1220668single nucleotide variantNM_130806.5(RXFP2):c.929+199A>Gnot provided [RCV001609652]benign133178294631782946Humanname
150431020CV1235308single nucleotide variantNM_130806.5(RXFP2):c.930-241T>Gnot provided [RCV001641678]benign133178614231786142Humanname
150499885CV1235813single nucleotide variantNM_130806.5(RXFP2):c.1074-42T>Cnot provided [RCV001656496]benign133178908031789080Humanname
150501760CV1241025deletionNM_130806.5(RXFP2):c.425+301delnot provided [RCV001656920]benign133176543331765433Humanname
150510981CV1242566single nucleotide variantNM_130806.5(RXFP2):c.498-184T>Cnot provided [RCV001660918]benign133177443631774436Humanname
150471251CV1248188single nucleotide variantNM_130806.5(RXFP2):c.425+186T>Gnot provided [RCV001671225]benign133176532831765328Human1name
150471251CV1248188single nucleotide variantNM_130806.5(RXFP2):c.425+186T>Gnot provided [RCV001671225]benign133176532831765329Human1name
150446236CV1261335single nucleotide variantNM_130806.5(RXFP2):c.320-162G>Anot provided [RCV001680009]benign133176487531764875Humanname
150460384CV1264167single nucleotide variantNM_130806.5(RXFP2):c.786-222G>Anot provided [RCV001682083]benign133178144931781449Humanname
150441843CV1265848single nucleotide variantNM_130806.5(RXFP2):c.241+139T>Cnot provided [RCV001690573]benign133175854331758543Humanname
150469492CV1268107single nucleotide variantNM_130806.5(RXFP2):c.569+159C>Tnot provided [RCV001694970]benign133177485031774850Humanname
150479178CV1273423single nucleotide variantNM_130806.5(RXFP2):c.241+120T>Cnot provided [RCV001696627]benign133175852431758524Humanname
150462477CV1276086single nucleotide variantNM_130806.5(RXFP2):c.930-171C>Tnot provided [RCV001710031]benign133178621231786212Humanname
150454435CV1276999single nucleotide variantNM_130806.5(RXFP2):c.2005+95T>Cnot provided [RCV001708790]benign133179751431797514Humanname
150465772CV1277294single nucleotide variantNM_130806.5(RXFP2):c.569+189A>Gnot provided [RCV001710588]benign133177488031774880Humanname
150508890CV1284396single nucleotide variantNM_130806.5(RXFP2):c.425+103C>Tnot provided [RCV001720504]benign133176524531765245Humanname
150513238CV1211863duplicationNM_130806.5(RXFP2):c.2006-284dupnot provided [RCV001598384]benign133180185631801857Humanname
150500067CV1256026duplicationNM_130806.5(RXFP2):c.1002-3_1002-2dupnot provided [RCV001676649]benign133178655431786555Humanname
150497912CV1281641duplicationNM_130806.5(RXFP2):c.1002-4_1002-2dupnot provided [RCV001717927]benign133178655431786555Humanname
150484392CV1222482single nucleotide variantNM_130806.5(RXFP2):c.261G>A (p.Ala87=)not provided [RCV001617485]benign133176174331761743Humanname
407468742CV3473240single nucleotide variantNM_130806.5(RXFP2):c.27T>A (p.His9Gln)not specified [RCV004661220]uncertain significance133173963931739639Humanname
150504048CV1212605single nucleotide variantNM_130806.5(RXFP2):c.957A>G (p.Glu319=)not provided [RCV001595480]benign133178641031786410Humanname
150513527CV1229039deletionNM_130806.5(RXFP2):c.320-328_320-325delnot provided [RCV001637881]benign133176470831764711Humanname
150504908CV1255335single nucleotide variantNM_130806.5(RXFP2):c.993A>G (p.Leu331=)not provided [RCV001677782]benign133178644631786446Humanname
155917418CV2362295single nucleotide variantNM_130806.5(RXFP2):c.73A>G (p.Ile25Val)not specified [RCV004212935]uncertain significance133173968531739685Humanname
405701273CV3310047single nucleotide variantNM_130806.5(RXFP2):c.59T>G (p.Phe20Cys)not specified [RCV004447125]uncertain significance133173967131739671Humanname
407425011CV3409303single nucleotide variantNM_130806.5(RXFP2):c.792G>A (p.Leu264=)not provided [RCV004585234]likely benign133178167731781677Humanname
407468748CV3473242single nucleotide variantNM_130806.5(RXFP2):c.41G>C (p.Arg14Thr)not specified [RCV004661222]uncertain significance133173965331739653Humanname
150493572CV1238696insertionNM_130806.5(RXFP2):c.786-115_786-114insCnot provided [RCV001655240]benign133178155631781557Humanname
156106368CV2217833single nucleotide variantNM_130806.5(RXFP2):c.220G>A (p.Gly74Arg)not specified [RCV004084006]uncertain significance133175838331758383Humanname
156233177CV2227738single nucleotide variantNM_130806.5(RXFP2):c.237C>A (p.Asn79Lys)not specified [RCV004094124]uncertain significance133175840031758400Humanname
155983121CV2273046single nucleotide variantNM_130806.5(RXFP2):c.237C>G (p.Asn79Lys)not specified [RCV004137698]uncertain significance133175840031758400Humanname
156115914CV2273455single nucleotide variantNM_130806.5(RXFP2):c.215G>A (p.Gly72Glu)not specified [RCV004132208]uncertain significance133175837831758378Humanname
155941977CV2301010single nucleotide variantNM_130806.5(RXFP2):c.251G>A (p.Ser84Asn)not specified [RCV004158171]uncertain significance133176173331761733Humanname
156162792CV2368287single nucleotide variantNM_130806.5(RXFP2):c.260C>T (p.Ala87Val)not specified [RCV004219071]uncertain significance133176174231761742Humanname
401772879CV2698016single nucleotide variantNM_130806.5(RXFP2):c.227A>G (p.Asp76Gly)not specified [RCV004302820]uncertain significance133175839031758390Humanname
401751480CV2708646single nucleotide variantNM_130806.5(RXFP2):c.133T>C (p.Cys45Arg)not specified [RCV004307629]uncertain significance133175829631758296Humanname
401897514CV2787120single nucleotide variantNM_130806.5(RXFP2):c.110A>C (p.Gln37Pro)not specified [RCV004360556]uncertain significance133175827331758273Humanname
407468744CV3473241single nucleotide variantNM_130806.5(RXFP2):c.104T>C (p.Leu35Pro)not specified [RCV004661221]uncertain significance133175826731758267Humanname
407468757CV3473246single nucleotide variantNM_130806.5(RXFP2):c.125C>T (p.Thr42Ile)not specified [RCV004661225]uncertain significance133175828831758288Humanname
597733946CV3597678single nucleotide variantNM_130806.5(RXFP2):c.118A>G (p.Met40Val)not specified [RCV004863393]uncertain significance133175828131758281Humanname
598234080CV3910116single nucleotide variantNM_130806.5(RXFP2):c.158G>A (p.Gly53Glu)not specified [RCV005274980]uncertain significance133175832131758321Humanname
598234086CV3910117single nucleotide variantNM_130806.5(RXFP2):c.223G>T (p.Ala75Ser)not specified [RCV005274981]uncertain significance133175838631758386Humanname
598234094CV3910118single nucleotide variantNM_130806.5(RXFP2):c.106A>C (p.Thr36Pro)not specified [RCV005274982]uncertain significance133175826931758269Humanname
8596313CV19198single nucleotide variantNM_130806.5(RXFP2):c.664A>C (p.Thr222Pro)Cryptorchidism [RCV000004376]|not provided [RCV003389746]pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance133177739831777398Human2name
155984902CV2247810single nucleotide variantNM_130806.5(RXFP2):c.635C>A (p.Thr212Asn)not specified [RCV004121274]uncertain significance133177538331775383Humanname
155993410CV2252255single nucleotide variantNM_130806.5(RXFP2):c.416T>C (p.Val139Ala)not specified [RCV004116123]uncertain significance133176513331765133Humanname
156179156CV2258302single nucleotide variantNM_130806.5(RXFP2):c.494A>T (p.Lys165Met)not specified [RCV004121659]uncertain significance133176602431766024Humanname
156246364CV2263730single nucleotide variantNM_130806.5(RXFP2):c.627T>A (p.His209Gln)not specified [RCV004136021]uncertain significance133177537531775375Humanname
156292177CV2321189single nucleotide variantNM_130806.5(RXFP2):c.346G>A (p.Asp116Asn)not specified [RCV004175311]uncertain significance133176506331765063Humanname
155937006CV2376221single nucleotide variantNM_130806.5(RXFP2):c.841G>A (p.Asp281Asn)not specified [RCV004220445]likely benign133178172631781726Humanname
156434986CV2403252deletionNM_130806.5(RXFP2):c.1406del (p.Phe469fs)Bilateral cryptorchidism [RCV003127202]pathogenic133179270731792707Human2name
329365500CV2444935single nucleotide variantNM_130806.5(RXFP2):c.589A>G (p.Ile197Val)not specified [RCV004261216]uncertain significance133177533731775337Humanname
329370100CV2461612single nucleotide variantNM_130806.5(RXFP2):c.869G>C (p.Arg290Thr)not specified [RCV004269788]uncertain significance133178268731782687Humanname
329398928CV2471794single nucleotide variantNM_130806.5(RXFP2):c.501T>A (p.Phe167Leu)not specified [RCV004280835]uncertain significance133177462331774623Humanname
401943472CV2840056single nucleotide variantNM_130806.5(RXFP2):c.779A>G (p.Asn260Ser)not provided [RCV003456843]likely benign133177857731778577Humanname
405701269CV3310046single nucleotide variantNM_130806.5(RXFP2):c.562C>A (p.Gln188Lys)not specified [RCV004447124]uncertain significance133177468431774684Humanname
405701282CV3310048single nucleotide variantNM_130806.5(RXFP2):c.758G>A (p.Cys253Tyr)not specified [RCV004447126]uncertain significance133177855631778556Humanname
405701287CV3310049single nucleotide variantNM_130806.5(RXFP2):c.938C>G (p.Ser313Cys)not specified [RCV004447127]uncertain significance133178639131786391Humanname
405701291CV3310050single nucleotide variantNM_130806.5(RXFP2):c.953C>T (p.Thr318Met)not specified [RCV004447128]likely benign133178640631786406Humanname
407468738CV3473239single nucleotide variantNM_130806.5(RXFP2):c.553T>C (p.Cys185Arg)not specified [RCV004661219]uncertain significance133177467531774675Humanname
407514139CV3473245single nucleotide variantNM_130806.5(RXFP2):c.803G>A (p.Arg268Lys)not specified [RCV004674391]uncertain significance133178168831781688Humanname
597733936CV3597676single nucleotide variantNM_130806.5(RXFP2):c.794A>G (p.Glu265Gly)not specified [RCV004863391]uncertain significance133178167931781679Humanname
597733952CV3597679single nucleotide variantNM_130806.5(RXFP2):c.414T>A (p.Asn138Lys)not specified [RCV004863394]uncertain significance133176513131765131Humanname
597733969CV3597682single nucleotide variantNM_130806.5(RXFP2):c.673T>A (p.Ser225Thr)not specified [RCV004863397]uncertain significance133177740731777407Humanname
597733985CV3597685single nucleotide variantNM_130806.5(RXFP2):c.586T>C (p.Cys196Arg)not specified [RCV004863400]likely benign133177533431775334Humanname
8635014CV90236single nucleotide variantNM_130806.3(RXFP2):c.787G>A (p.Asp263Asn)Malignant melanoma [RCV000070334]not provided133178167231781672Humanname
8635015CV90237single nucleotide variantNM_130806.3(RXFP2):c.796G>T (p.Gly266Cys)Malignant melanoma [RCV000070335]not provided133178168131781681Humanname
150404886CV1189402single nucleotide variantNM_130806.5(RXFP2):c.1904C>T (p.Ala635Val)Disorder of sexual differentiation [RCV001564030]uncertain significance133179731831797318Human1name
150463038CV1263747single nucleotide variantNM_130806.5(RXFP2):c.1810A>G (p.Ile604Val)not provided [RCV001682448]benign133179722431797224Humanname
155947965CV2245816single nucleotide variantNM_130806.5(RXFP2):c.2257G>A (p.Val753Ile)not specified [RCV004111669]uncertain significance133180239731802397Humanname
155987438CV2248087single nucleotide variantNM_130806.5(RXFP2):c.1585A>G (p.Ser529Gly)not specified [RCV004115360]uncertain significance133179288731792887Humanname
156070364CV2251330single nucleotide variantNM_130806.5(RXFP2):c.1090G>A (p.Glu364Lys)not specified [RCV004115538]uncertain significance133178913831789138Humanname
155984189CV2344717single nucleotide variantNM_130806.5(RXFP2):c.1426A>G (p.Ile476Val)RXFP2-related disorder [RCV003420492]|not specified [RCV004190875]uncertain significance133179272831792728Humanname , trait , alternate_id
155930399CV2361137single nucleotide variantNM_130806.5(RXFP2):c.1487G>A (p.Arg496His)not specified [RCV004216327]uncertain significance133179278931792789Humanname
155938596CV2365053single nucleotide variantNM_130806.5(RXFP2):c.2075C>T (p.Thr692Ile)not specified [RCV004224210]uncertain significance133180221531802215Humanname
156072782CV2365410single nucleotide variantNM_130806.5(RXFP2):c.2091T>G (p.Phe697Leu)not specified [RCV004209490]uncertain significance133180223131802231Humanname
156041957CV2381411single nucleotide variantNM_130806.5(RXFP2):c.1208C>T (p.Thr403Met)not specified [RCV004229900]uncertain significance133179186831791868Humanname
156434988CV2403253single nucleotide variantNM_130806.5(RXFP2):c.1015A>G (p.Asn339Asp)Bilateral cryptorchidism [RCV003127203]likely pathogenic133178657931786579Human2name
329398738CV2471682single nucleotide variantNM_130806.5(RXFP2):c.1508T>C (p.Met503Thr)not specified [RCV004286967]uncertain significance133179281031792810Humanname
401934050CV2802703single nucleotide variantNM_130806.5(RXFP2):c.1190G>A (p.Arg397Gln)RXFP2-related disorder [RCV003410909]uncertain significance133179185031791850Humanname , trait , alternate_id
401932600CV2813805single nucleotide variantNM_130806.5(RXFP2):c.1622T>C (p.Ile541Thr)not provided [RCV003392194]likely benign133179292431792924Humanname
401929713CV2813806single nucleotide variantNM_130806.5(RXFP2):c.1726C>T (p.Leu576Phe)not provided [RCV003390353]uncertain significance133179302831793028Humanname
405701105CV3310041single nucleotide variantNM_130806.5(RXFP2):c.1477G>A (p.Val493Met)not specified [RCV004447119]uncertain significance133179277931792779Humanname
405701114CV3310042single nucleotide variantNM_130806.5(RXFP2):c.1486C>T (p.Arg496Cys)not specified [RCV004447120]uncertain significance133179278831792788Humanname
405701120CV3310043single nucleotide variantNM_130806.5(RXFP2):c.1990C>T (p.Arg664Trp)not specified [RCV004447121]uncertain significance133179740431797404Humanname
405701123CV3310044single nucleotide variantNM_130806.5(RXFP2):c.2018C>T (p.Ser673Phe)not specified [RCV004447122]uncertain significance133180215831802158Humanname
407514137CV3473238single nucleotide variantNM_130806.5(RXFP2):c.1112G>A (p.Arg371Gln)not specified [RCV004674390]uncertain significance133178916031789160Humanname
407468751CV3473243single nucleotide variantNM_130806.5(RXFP2):c.1969G>A (p.Val657Ile)not specified [RCV004661223]likely benign133179738331797383Humanname
407468754CV3473244single nucleotide variantNM_130806.5(RXFP2):c.1839C>G (p.Phe613Leu)not specified [RCV004661224]uncertain significance133179725331797253Humanname
597733913CV3597672single nucleotide variantNM_130806.5(RXFP2):c.1961T>C (p.Val654Ala)not specified [RCV004863387]uncertain significance133179737531797375Humanname
597733925CV3597674single nucleotide variantNM_130806.5(RXFP2):c.1436G>A (p.Arg479Gln)not specified [RCV004863389]uncertain significance133179273831792738Humanname
597733931CV3597675single nucleotide variantNM_130806.5(RXFP2):c.1643C>T (p.Ala548Val)not specified [RCV004863390]likely benign133179294531792945Humanname
597733942CV3597677single nucleotide variantNM_130806.5(RXFP2):c.2060A>T (p.Asn687Ile)not specified [RCV004863392]uncertain significance133180220031802200Humanname
597733958CV3597680single nucleotide variantNM_130806.5(RXFP2):c.1903G>T (p.Ala635Ser)not specified [RCV004863395]uncertain significance133179731731797317Humanname
597733963CV3597681single nucleotide variantNM_130806.5(RXFP2):c.1727T>G (p.Leu576Arg)not specified [RCV004863396]uncertain significance133179302931793029Humanname
597733982CV3597684single nucleotide variantNM_130806.5(RXFP2):c.1035C>G (p.His345Gln)not specified [RCV004863399]uncertain significance133178659931786599Humanname
597733992CV3597686single nucleotide variantNM_130806.5(RXFP2):c.1714G>A (p.Val572Ile)not specified [RCV004863401]uncertain significance133179301631793016Humanname
598234099CV3910119single nucleotide variantNM_130806.5(RXFP2):c.1148A>G (p.Tyr383Cys)not specified [RCV005274983]uncertain significance133179180831791808Humanname
598234109CV3910121single nucleotide variantNM_130806.5(RXFP2):c.1457C>A (p.Ala486Asp)not specified [RCV005274985]uncertain significance133179275931792759Humanname
15104680CV702663single nucleotide variantNM_130806.5(RXFP2):c.1858G>A (p.Ala620Thr)not provided [RCV000959733]likely benign133179727231797272Humanname
8635016CV90238single nucleotide variantNM_130806.3(RXFP2):c.1097C>T (p.Pro366Leu)Malignant melanoma [RCV000070336]not provided133178914531789145Humanname