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88 records found for search term Grxcr2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405276411CV3206725single nucleotide variantNM_001080516.2(GRXCR2):c.*3C>TGRXCR2-related disorder [RCV003917161]likely benign5145859730145859730Humanname , trait , alternate_id
150473381CV1252398single nucleotide variantNM_001080516.2(GRXCR2):c.*13G>Cnot provided [RCV001671600]benign5145859720145859720Humanname
150464483CV1252695single nucleotide variantNM_001080516.2(GRXCR2):c.-43G>Anot provided [RCV001670019]benign5145873011145873011Humanname
150433105CV1230399single nucleotide variantNM_001080516.2(GRXCR2):c.*292T>Cnot provided [RCV001643344]benign5145859441145859441Humanname
150500773CV1238246single nucleotide variantNM_001080516.2(GRXCR2):c.*177C>Gnot provided [RCV001656676]benign5145859556145859556Humanname
11525709CV246975single nucleotide variantNM_001080516.2(GRXCR2):c.564+5G>Anot specified [RCV000238758]uncertain significance5145866496145866496Humanname
405242414CV3078528single nucleotide variantNM_001080516.2(GRXCR2):c.564+6T>Cnot provided [RCV003737462]likely benign5145866495145866495Humanname
156177946CV1953267single nucleotide variantNM_001080516.2(GRXCR2):c.337-20C>Tnot provided [RCV002574023]benign5145866748145866748Humanname
156081891CV2098717single nucleotide variantNM_001080516.2(GRXCR2):c.564+11G>Anot provided [RCV002912731]likely benign5145866490145866490Humanname
405223470CV2891227single nucleotide variantNM_001080516.2(GRXCR2):c.565-10T>Cnot provided [RCV003554213]likely benign5145859925145859925Humanname
150510289CV1248603single nucleotide variantNM_001080516.2(GRXCR2):c.564+315T>Anot provided [RCV001659673]benign5145866186145866186Humanname
150489361CV1265409single nucleotide variantNM_001080516.2(GRXCR2):c.564+102G>Cnot provided [RCV001687445]benign5145866399145866399Humanname
150457553CV1269506single nucleotide variantNM_001080516.2(GRXCR2):c.337-280A>Gnot provided [RCV001693046]benign5145867008145867008Humanname
152161426CV1555387single nucleotide variantNM_001080516.2(GRXCR2):c.36T>C (p.Ser12=)GRXCR2-related disorder [RCV003923591]|not provided [RCV002103870]likely benign5145872933145872933Human1name , trait , alternate_id
152124351CV1665666single nucleotide variantNM_001080516.2(GRXCR2):c.48C>G (p.Pro16=)not provided [RCV002198479]likely benign5145872921145872921Humanname
402485487CV2865155single nucleotide variantNM_001080516.2(GRXCR2):c.84C>T (p.Ser28=)not provided [RCV003544429]likely benign5145872885145872885Humanname
597847069CV3761972single nucleotide variantNM_001080516.2(GRXCR2):c.69C>A (p.Ile23=)not provided [RCV005087390]likely benign5145872900145872900Humanname
152085920CV1531622single nucleotide variantNM_001080516.2(GRXCR2):c.144A>G (p.Glu48=)not provided [RCV002076981]likely benign5145872825145872825Humanname
156194846CV2099155single nucleotide variantNM_001080516.2(GRXCR2):c.132A>C (p.Ser44=)not provided [RCV002917575]likely benign5145872837145872837Humanname
156391023CV2118646single nucleotide variantNM_001080516.2(GRXCR2):c.160C>T (p.Leu54=)GRXCR2-related disorder [RCV003943644]|not provided [RCV002943908]likely benign5145872809145872809Human1name , trait , alternate_id
401917981CV2825369single nucleotide variantNM_001080516.2(GRXCR2):c.216G>A (p.Arg72=)not provided [RCV003429864]likely benign5145872753145872753Humanname
151889726CV1446104single nucleotide variantNM_001080516.2(GRXCR2):c.85G>A (p.Gly29Ser)not provided [RCV001963486]uncertain significance5145872884145872884Humanname
152167863CV1577558single nucleotide variantNM_001080516.2(GRXCR2):c.426G>A (p.Val142=)not provided [RCV002204819]likely benign5145866639145866639Humanname
152070021CV1640299single nucleotide variantNM_001080516.2(GRXCR2):c.324G>A (p.Ala108=)not provided [RCV002147947]benign|likely benign5145872645145872645Humanname
329376182CV2465307single nucleotide variantNM_001080516.2(GRXCR2):c.46C>T (p.Pro16Ser)not specified [RCV004281099]uncertain significance5145872923145872923Humanname
405147844CV2881478single nucleotide variantNM_001080516.2(GRXCR2):c.609G>C (p.Ser203=)not provided [RCV003561385]likely benign5145859871145859871Humanname
597940665CV3772794single nucleotide variantNM_001080516.2(GRXCR2):c.456T>C (p.Ala152=)not provided [RCV005118424]likely benign5145866609145866609Humanname
597962279CV3809128single nucleotide variantNM_001080516.2(GRXCR2):c.537C>T (p.Ser179=)not provided [RCV005164030]likely benign5145866528145866528Humanname
597860554CV3813411single nucleotide variantNM_001080516.2(GRXCR2):c.651G>T (p.Ser217=)not provided [RCV005146673]likely benign5145859829145859829Humanname
597863448CV3814029single nucleotide variantNM_001080516.2(GRXCR2):c.339C>T (p.Pro113=)not provided [RCV005147098]likely benign5145866726145866726Humanname
597976343CV3829377single nucleotide variantNM_001080516.2(GRXCR2):c.630G>C (p.Leu210=)not provided [RCV005169826]likely benign5145859850145859850Humanname
597890271CV3839719single nucleotide variantNM_001080516.2(GRXCR2):c.609G>A (p.Ser203=)not provided [RCV005179611]likely benign5145859871145859871Humanname
597904876CV3853037single nucleotide variantNM_001080516.2(GRXCR2):c.312C>T (p.Asn104=)not provided [RCV005202694]likely benign5145872657145872657Humanname
598220587CV3891821single nucleotide variantNM_001080516.2(GRXCR2):c.88C>T (p.Arg30Ter)Autosomal recessive nonsyndromic hearing loss 101 [RCV005253159]pathogenic5145872881145872881Human1name
13515929CV493676single nucleotide variantNM_001080516.2(GRXCR2):c.636C>T (p.His212=)not provided [RCV000594893]uncertain significance5145859844145859844Humanname
15112851CV721281single nucleotide variantNM_001080516.2(GRXCR2):c.579C>T (p.Pro193=)GRXCR2-related disorder [RCV003958011]|not provided [RCV000894548]benign|likely benign5145859901145859901Human1name , trait , alternate_id
15199687CV721282single nucleotide variantNM_001080516.2(GRXCR2):c.510C>T (p.His170=)not provided [RCV000890702]benign5145866555145866555Humanname
151726993CV1339841single nucleotide variantNM_001080516.2(GRXCR2):c.260T>G (p.Val87Gly)not provided [RCV002004384]uncertain significance5145872709145872709Humanname
151667695CV1354053single nucleotide variantNM_001080516.2(GRXCR2):c.292G>T (p.Gly98Cys)Autosomal recessive nonsyndromic hearing loss 101 [RCV005032035]|not provided [RCV001963816]|not specified [RCV004631871]uncertain significance5145872677145872677Human1name
8689272CV137086duplicationNM_001080516.2(GRXCR2):c.714dup (p.Gly239fs)Autosomal recessive nonsyndromic hearing loss 101 [RCV000119847]pathogenic5145859765145859766Human1name
151730314CV1413057single nucleotide variantNM_001080516.2(GRXCR2):c.277G>T (p.Ala93Ser)not provided [RCV002004704]uncertain significance5145872692145872692Humanname
151809215CV1498790single nucleotide variantNM_001080516.2(GRXCR2):c.277G>A (p.Ala93Thr)not provided [RCV002048696]|not specified [RCV005350881]uncertain significance5145872692145872692Humanname
152054485CV1590737single nucleotide variantNM_001080516.2(GRXCR2):c.128A>G (p.Glu43Gly)not provided [RCV002109374]likely benign5145872841145872841Humanname
156414008CV1979229single nucleotide variantNM_001080516.2(GRXCR2):c.288G>C (p.Leu96Phe)not provided [RCV002609011]uncertain significance5145872681145872681Humanname
156340768CV1984873single nucleotide variantNM_001080516.2(GRXCR2):c.193T>G (p.Tyr65Asp)not provided [RCV002631422]|not specified [RCV005350979]uncertain significance5145872776145872776Humanname
156008042CV2175681deletionNM_001080516.2(GRXCR2):c.681del (p.Arg228fs)not provided [RCV003035087]uncertain significance5145859799145859799Humanname
156134294CV2181417single nucleotide variantNM_001080516.2(GRXCR2):c.100C>T (p.Gln34Ter)not provided [RCV003039809]pathogenic|uncertain significance5145872869145872869Humanname
155987547CV2234114single nucleotide variantNM_001080516.2(GRXCR2):c.119A>G (p.Gln40Arg)not specified [RCV004106211]uncertain significance5145872850145872850Humanname
156131019CV2235206single nucleotide variantNM_001080516.2(GRXCR2):c.259G>A (p.Val87Met)not specified [RCV004107258]uncertain significance5145872710145872710Humanname
156120593CV2354179single nucleotide variantNM_001080516.2(GRXCR2):c.182T>C (p.Met61Thr)not specified [RCV004206611]uncertain significance5145872787145872787Humanname
329401229CV2442218single nucleotide variantNM_001080516.2(GRXCR2):c.211C>A (p.Pro71Thr)not specified [RCV004264710]uncertain significance5145872758145872758Humanname
329354979CV2449193single nucleotide variantNM_001080516.2(GRXCR2):c.172C>T (p.Leu58Phe)not specified [RCV004264249]uncertain significance5145872797145872797Humanname
12849792CV363990single nucleotide variantNM_001080516.2(GRXCR2):c.220C>G (p.Gln74Glu)GRXCR2-related disorder [RCV003922693]|not provided [RCV000435975]likely benign|conflicting interpretations of pathogenicity|uncertain significance5145872749145872749Human1name , trait , alternate_id
597771111CV3688523single nucleotide variantNM_001080516.2(GRXCR2):c.289G>T (p.Ala97Ser)not specified [RCV004928441]uncertain significance5145872680145872680Humanname
597756230CV3688524single nucleotide variantNM_001080516.2(GRXCR2):c.217C>G (p.Pro73Ala)not specified [RCV004924825]uncertain significance5145872752145872752Humanname
597721650CV3733782single nucleotide variantNM_001080516.2(GRXCR2):c.247C>T (p.Gln83Ter)Autosomal recessive nonsyndromic hearing loss 101 [RCV005053087]likely pathogenic5145872722145872722Human1name
598189295CV3978332single nucleotide variantNM_001080516.2(GRXCR2):c.137A>T (p.Lys46Met)not specified [RCV005353975]uncertain significance5145872832145872832Humanname
598189303CV3978333single nucleotide variantNM_001080516.2(GRXCR2):c.133C>A (p.Pro45Thr)not specified [RCV005353976]uncertain significance5145872836145872836Humanname
13515975CV490981single nucleotide variantNM_001080516.2(GRXCR2):c.154A>G (p.Ser52Gly)not provided [RCV000594948]|not specified [RCV004024770]uncertain significance5145872815145872815Humanname
15199692CV721283single nucleotide variantNM_001080516.2(GRXCR2):c.182T>G (p.Met61Arg)not provided [RCV000890703]benign5145872787145872787Humanname
21066524CV793077single nucleotide variantNM_001080516.2(GRXCR2):c.293G>A (p.Gly98Asp)GRXCR2-related disorder [RCV003973004]|not provided [RCV000992113]benign5145872676145872676Human1name , trait , alternate_id
21066522CV793078single nucleotide variantNM_001080516.2(GRXCR2):c.155G>A (p.Ser52Asn)GRXCR2-related disorder [RCV003962968]|not provided [RCV000992112]benign5145872814145872814Human1name , trait , alternate_id
150409036CV1182294single nucleotide variantNM_001080516.2(GRXCR2):c.323C>T (p.Ala108Val)Hearing loss, autosomal recessive [RCV001553769]pathogenic5145872646145872646Human2name
150442032CV1226047single nucleotide variantNM_001080516.2(GRXCR2):c.543A>C (p.Leu181Phe)Autosomal recessive nonsyndromic hearing loss 101 [RCV001703137]|not provided [RCV001619265]benign5145866522145866522Human1name
151889892CV1350368single nucleotide variantNM_001080516.2(GRXCR2):c.384C>A (p.Asn128Lys)not provided [RCV002038692]uncertain significance5145866681145866681Humanname
151822235CV1351191single nucleotide variantNM_001080516.2(GRXCR2):c.580G>A (p.Glu194Lys)Autosomal recessive nonsyndromic hearing loss 101 [RCV002492106]|not provided [RCV001992890]|not specified [RCV004043965]uncertain significance5145859900145859900Human1name
151740480CV1402168single nucleotide variantNM_001080516.2(GRXCR2):c.663C>G (p.Asn221Lys)not provided [RCV001911880]|not specified [RCV004616810]uncertain significance5145859817145859817Humanname
151763043CV1407482single nucleotide variantNM_001080516.2(GRXCR2):c.304C>T (p.Arg102Trp)not provided [RCV002044499]|not specified [RCV005350662]uncertain significance5145872665145872665Humanname
151746761CV1428362single nucleotide variantNM_001080516.2(GRXCR2):c.679T>C (p.Tyr227His)not provided [RCV001927059]uncertain significance5145859801145859801Humanname
151719771CV1500240single nucleotide variantNM_001080516.2(GRXCR2):c.559A>G (p.Thr187Ala)not provided [RCV001909542]uncertain significance5145866506145866506Humanname
156405439CV1919339single nucleotide variantNM_001080516.2(GRXCR2):c.511G>A (p.Asp171Asn)not provided [RCV002585647]uncertain significance5145866554145866554Humanname
155931914CV1919522single nucleotide variantNM_001080516.2(GRXCR2):c.676T>C (p.Ser226Pro)not provided [RCV002615041]uncertain significance5145859804145859804Humanname
156343612CV1994984single nucleotide variantNM_001080516.2(GRXCR2):c.463G>T (p.Glu155Ter)not provided [RCV002650450]pathogenic|uncertain significance5145866602145866602Humanname
155939463CV1995858single nucleotide variantNM_001080516.2(GRXCR2):c.667T>C (p.Phe223Leu)not provided [RCV002685366]|not specified [RCV004917797]uncertain significance5145859813145859813Humanname
156170800CV2041566single nucleotide variantNM_001080516.2(GRXCR2):c.710A>T (p.Glu237Val)not provided [RCV002741854]uncertain significance5145859770145859770Humanname
156001594CV2045597single nucleotide variantNM_001080516.2(GRXCR2):c.305G>A (p.Arg102Gln)not provided [RCV002756234]likely benign5145872664145872664Humanname
156095883CV2139635single nucleotide variantNM_001080516.2(GRXCR2):c.553C>T (p.Arg185Trp)not provided [RCV002979789]uncertain significance5145866512145866512Humanname
156166695CV2398956single nucleotide variantNM_001080516.2(GRXCR2):c.626C>T (p.Ser209Phe)not specified [RCV004245268]uncertain significance5145859854145859854Humanname
329375728CV2431486single nucleotide variantNM_001080516.2(GRXCR2):c.742C>A (p.Gln248Lys)not specified [RCV004254648]uncertain significance5145859738145859738Humanname
329388760CV2447838single nucleotide variantNM_001080516.2(GRXCR2):c.637G>A (p.Gly213Ser)not specified [RCV004258611]uncertain significance5145859843145859843Humanname
329379485CV2456187single nucleotide variantNM_001080516.2(GRXCR2):c.521T>C (p.Leu174Ser)not specified [RCV004273376]uncertain significance5145866544145866544Humanname
401961613CV2843935single nucleotide variantNM_001080516.2(GRXCR2):c.449A>C (p.Glu150Ala)not provided [RCV003481774]uncertain significance5145866616145866616Humanname
405259679CV3186375single nucleotide variantNM_001080516.2(GRXCR2):c.557A>G (p.Tyr186Cys)not provided [RCV003884134]uncertain significance5145866508145866508Humanname
597771106CV3688522single nucleotide variantNM_001080516.2(GRXCR2):c.680A>G (p.Tyr227Cys)not specified [RCV004928440]uncertain significance5145859800145859800Humanname
598189273CV3978329single nucleotide variantNM_001080516.2(GRXCR2):c.313G>A (p.Asp105Asn)not specified [RCV005353972]uncertain significance5145872656145872656Humanname
598189281CV3978330single nucleotide variantNM_001080516.2(GRXCR2):c.488G>C (p.Ser163Thr)not specified [RCV005353973]uncertain significance5145866577145866577Humanname
151710072CV1502089deletionNM_001080516.2(GRXCR2):c.726_*2del (p.Pro242_Ter249delinsXaa)not provided [RCV001907805]uncertain significance5145859731145859754Humanname
156349625CV2125483insertionNM_001080516.2(GRXCR2):c.671_672insAAA (p.Lys224_Glu225insLys)not provided [RCV002966202]uncertain significance5145859808145859809Humanname