I3L300 · I3L300_HUMAN

Variants

121520406080100120140160180200
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
rs20562214152E>DgnomAD
rs20562213673E>GTOPMed
rs7748543213E>KExAC
TOPMed
gnomAD
rs7513296104V>IEnsembl
rs7605702495I>KExAC
TOPMed
gnomAD
rs7605702495I>TExAC
TOPMed
gnomAD
rs7683611775I>VExAC
TOPMed
gnomAD
rs20561631936K>ETOPMed
rs14387438777N>KTOPMed
gnomAD
rs20561631577N>TTOPMed
COSV53573473
rs1367661195
8S>F
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs13676611958S>YgnomAD
rs14341098269P>ATOPMed
gnomAD
rs13861712569P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
dbSNP
gnomAD
rs13861712569P>RgnomAD
rs14341098269P>STOPMed
gnomAD
rs37473560510V>MESP
ExAC
gnomAD
rs74896977412T>AExAC
gnomAD
rs117032880912T>MgnomAD
rs205616276013F>CEnsembl
rs142105177115S>NTOPMed
gnomAD
rs118752258617T>AgnomAD
rs143589389418F>STOPMed
rs121291666719S>GgnomAD
rs131331858019S>ITOPMed
gnomAD
rs131331858019S>TTOPMed
gnomAD
rs92226041520S>FTOPMed
gnomAD
rs156742218321L>FEnsembl
rs75902830223D>HExAC
gnomAD
rs75902830223D>NExAC
gnomAD
rs75902830223D>YExAC
gnomAD
rs122165412727S>PTOPMed
rs122165412727S>TTOPMed
rs205616212329T>AEnsembl
rs144842396530V>LTOPMed
gnomAD
rs75384250333T>MExAC
TOPMed
gnomAD
rs205616200835S>FgnomAD
rs159714369436T>PEnsembl
rs116761732938C>RgnomAD
rs205616188638C>SgnomAD
rs205616188638C>YgnomAD
rs118399646540L>QgnomAD
rs98577733741K>EgnomAD
rs148174099941K>RTOPMed
gnomAD
rs20110275842Y>C1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs18652786543E>K1000Genomes
ExAC
TOPMed
gnomAD
rs18652786543E>Q1000Genomes
ExAC
TOPMed
gnomAD
rs135262660344A>STOPMed
gnomAD
rs37204835044A>V1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs122801083045A>TgnomAD
COSV99570865
rs1306009113
45A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
dbSNP
gnomAD
rs77711357546T>ALikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs77711357546T>PLikely benign (Ensembl)ExAC
TOPMed
gnomAD
rs205616135446T>STOPMed
gnomAD
rs14522392447V>L1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs14522392447V>M1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs100219949249P>HTOPMed
gnomAD
rs100219949249P>RTOPMed
gnomAD
rs75099343549P>SExAC
TOPMed
gnomAD
rs75099343549P>TExAC
TOPMed
gnomAD
rs36782298950P>LESP
ExAC
TOPMed
gnomAD
rs205616111651P>SEnsembl
rs76406892852A>PExAC
TOPMed
gnomAD
rs76406892852A>TExAC
TOPMed
gnomAD
rs76733082353A>GExAC
TOPMed
gnomAD
rs75279611953A>SExAC
TOPMed
gnomAD
rs75279611953A>TExAC
TOPMed
gnomAD
rs76733082353A>VExAC
TOPMed
gnomAD
rs55861058355A>G1000Genomes
ExAC
TOPMed
gnomAD
rs205616090655A>STOPMed
rs205616090655A>TTOPMed
rs55861058355A>V1000Genomes
ExAC
TOPMed
gnomAD
rs205616083656V>ITOPMed
rs76634296958S>NExAC
gnomAD
rs76634296958S>TExAC
gnomAD
rs205616072159A>GgnomAD
rs77712867659A>TExAC
TOPMed
gnomAD
rs104699669760A>STOPMed
rs129118647060A>VgnomAD
rs205616060661L>VEnsembl
rs92987748463L>MTOPMed
gnomAD
rs92987748463L>VTOPMed
gnomAD
rs92231424464E>*TOPMed
gnomAD
rs92231424464E>KTOPMed
gnomAD
rs92231424464E>QTOPMed
gnomAD
rs159714353865V>AgnomAD
rs159714353865V>GgnomAD
rs129382299665V>LgnomAD
rs129382299665V>MgnomAD
rs76681027766L>PTOPMed
gnomAD
rs205616027667S>CTOPMed
rs145912070768L>FTOPMed
gnomAD
rs141747040669A>ETOPMed
gnomAD
rs118170146469A>PTOPMed
gnomAD
rs118170146469A>TTOPMed
gnomAD
rs141747040669A>VTOPMed
gnomAD
rs77610225472I>MExAC
TOPMed
gnomAD
rs205615996573R>TgnomAD
rs18790382975V>A1000Genomes
ExAC
gnomAD
rs205612016875V>MTOPMed
rs118678023776F>YTOPMed
gnomAD
rs90081855078L>VTOPMed
gnomAD
rs145030246880D>AgnomAD
rs37567460381V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs76616285483A>PExAC
gnomAD
rs75808576284C>FExAC
TOPMed
gnomAD
rs75808576284C>YExAC
TOPMed
gnomAD
rs75021399587R>CExAC
TOPMed
gnomAD
rs75021399587R>GExAC
TOPMed
gnomAD
rs14219807087R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs14219807087R>LESP
ExAC
TOPMed
gnomAD
rs76040967691W>CExAC
TOPMed
gnomAD
rs126797463591W>RTOPMed
gnomAD
rs54521696193A>S1000Genomes
ExAC
TOPMed
gnomAD
COSV104396401
rs545216961
93A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs76327531894G>SExAC
TOPMed
gnomAD
rs137376189495W>CgnomAD
rs205611936696L>VEnsembl
rs100427726497P>AEnsembl
rs77359316998R>CExAC
TOPMed
gnomAD
rs77027008098R>H
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
ExAC
TOPMed
dbSNP
gnomAD
rs77359316998R>SExAC
TOPMed
gnomAD
rs91093715199H>LEnsembl
rs2056119186100C>RTOPMed
rs748638309101I>LExAC
TOPMed
gnomAD
rs1473692140102G>RTOPMed
gnomAD
rs747260152104I>LVariant of uncertain significance (Ensembl)ExAC
TOPMed
gnomAD
rs149616013106V>L1000Genomes
ExAC
TOPMed
gnomAD
rs149616013106V>M1000Genomes
ExAC
TOPMed
gnomAD
rs755239155107S>LTOPMed
rs1026739385109P>REnsembl
rs144986362110A>T
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs145252548110A>VESP
TOPMed
gnomAD
rs1290685591112A>VTOPMed
gnomAD
rs377240633113V>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1567419589114Y>*Ensembl
rs2056118458115S>ATOPMed
gnomAD
rs959451403115S>YTOPMed
gnomAD
rs767115758116H>RExAC
TOPMed
gnomAD
rs1303982675118T>ITOPMed
gnomAD
rs1567419574118T>SEnsembl
rs2056118281119S>AEnsembl
rs770135718120E>KExAC
gnomAD
rs770135718120E>QExAC
gnomAD
rs1182795178121Y>HTOPMed
gnomAD
rs2056118124122E>DTOPMed
gnomAD
rs2056118099123T>ITOPMed
rs372821407124N>D1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777080266125I>TExAC
gnomAD
rs1202549975125I>VTOPMed
rs768742360126H>DExAC
gnomAD
rs2056117899126H>LTOPMed
rs768742360126H>NExAC
gnomAD
rs2056117899126H>PTOPMed
rs1251094400127F>ITOPMed
gnomAD
rs2056104340128P>LgnomAD
rs550558850129V>AExAC
TOPMed
gnomAD
rs550558850129V>GExAC
TOPMed
gnomAD
rs764388635129V>LExAC
gnomAD
rs764388635129V>MExAC
gnomAD
rs1439383555130F>VTOPMed
rs776026141131T>AExAC
TOPMed
gnomAD
rs759712460131T>IExAC
gnomAD
rs759712460131T>RExAC
gnomAD
rs1359591767132G>ATOPMed
gnomAD
rs1359591767132G>DTOPMed
gnomAD
rs1359591767132G>VTOPMed
gnomAD
rs771344306133S>LExAC
TOPMed
gnomAD
rs1597139296134A>VEnsembl
rs147280539135A>P1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147280539135A>S1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147280539135A>T1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSV53578739
rs912752455
135A>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
dbSNP
gnomAD
rs779529291136L>MExAC
TOPMed
gnomAD
rs2056103791136L>PTOPMed
rs1597139260138A>VEnsembl
rs150826321139V>FVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs2141683155139V>GEnsembl
rs150826321139V>IVariant of uncertain significance (Ensembl)ESP
ExAC
TOPMed
gnomAD
rs756453051140V>MExAC
TOPMed
gnomAD
rs2056103524141H>YgnomAD
rs905073122142Y>FTOPMed
gnomAD
rs1457319401142Y>HTOPMed
gnomAD
rs905073122142Y>STOPMed
gnomAD
rs1045137938143C>RTOPMed
gnomAD
rs1045137938143C>STOPMed
gnomAD
rs1252168727143C>YTOPMed
gnomAD
rs1204091731145F>IgnomAD
rs2056103270147Q>*Ensembl
rs752983999148L>FExAC
gnomAD
rs2056103209148L>HTOPMed
gnomAD
rs1310659602151W>RTOPMed
gnomAD
COSV99569440
rs2056103155
152M>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
Ensembl
rs759954267153R>KExAC
gnomAD
rs759954267153R>MExAC
gnomAD
rs1464029468154S>ATOPMed
gnomAD
rs1329834891154S>FTOPMed
rs751717694156L>FExAC
TOPMed
gnomAD
rs763272036157A>SExAC
TOPMed
gnomAD
rs763272036157A>TExAC
TOPMed
gnomAD
rs1167591871159V>ATOPMed
gnomAD
rs776256089159V>IExAC
TOPMed
gnomAD
rs779548082160V>LExAC
TOPMed
gnomAD
COSV53582340
rs779548082
160V>M
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs144319192162A>TESP
ExAC
TOPMed
gnomAD
rs753174574163G>AExAC
gnomAD
rs753174574163G>EExAC
gnomAD
rs1214446616163G>RTOPMed
gnomAD
COSV53574819
rs2056102426
164P>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
TOPMed
rs374631917164P>SESP
ExAC
TOPMed
gnomAD
rs2056102362165L>PEnsembl
rs1646744104166L>ITOPMed
rs1190816780166L>PTOPMed
gnomAD
rs1262881841168L>FEnsembl
rs750505834169Y>CExAC
TOPMed
gnomAD
rs1169192126169Y>DTOPMed
gnomAD
rs1169192126169Y>HTOPMed
gnomAD
rs374209133170V>IESP
ExAC
TOPMed
gnomAD
rs1347599961171S>FTOPMed
gnomAD
rs1347599961171S>YTOPMed
gnomAD
rs768273214172L>PVariant of uncertain significance (Ensembl)ExAC
gnomAD
rs2056102050172L>VEnsembl
rs1176556124174P>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
rs1039087539174P>LTOPMed
rs200807161178V>L1000Genomes
ExAC
gnomAD
rs780559235180T>AExAC
TOPMed
gnomAD
COSV99570732
rs758989525
180T>I
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
dbSNP
gnomAD
rs758989525180T>SExAC
gnomAD
COSV53571472
rs779084996
181S>L
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA Cosmic
ExAC
TOPMed
dbSNP
gnomAD
rs1044390225182P>AVariant of uncertain significance (Ensembl)gnomAD
rs2056079351183L>RTOPMed
rs2056079315184D>YEnsembl
rs756325728185A>TExAC
gnomAD
rs950171987186V>ITOPMed
gnomAD
rs950171987186V>LTOPMed
gnomAD
rs1434141802187Q>KTOPMed
gnomAD
rs2056079141188N>KgnomAD
TCGA novel
rs2141679924
189F>S
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
NCI-TCGA
Ensembl
rs1029333832190R>STOPMed
gnomAD
rs1171645019191R>KTOPMed
rs997742731192R>*Ensembl
rs997742731192R>GEnsembl
rs761784973192R>QTOPMed
gnomAD
rs2055892402194P>RTOPMed
rs1036642388195C>FTOPMed
gnomAD
rs1036642388195C>STOPMed
gnomAD
rs1052532857197E>DTOPMed
gnomAD
rs1597124566199D>GEnsembl
rs2141660085199D>NEnsembl
rs1597124559200S>PEnsembl
rs2055892319203P>TTOPMed
rs2055892274204F>CEnsembl
rs2055892287204F>LTOPMed
rs1168023502205S>RTOPMed
gnomAD
rs570887157207Q>*ExAC
TOPMed
gnomAD
rs2055892213208E>KEnsembl
rs1220892590209E>DTOPMed
gnomAD
rs2055892196209E>KgnomAD
rs1457754288211C>GTOPMed
rs569524471212R>C1000Genomes
TOPMed
gnomAD
rs569524471212R>G1000Genomes
TOPMed
gnomAD
rs182711672212R>H1000Genomes
TOPMed
gnomAD
rs1487476668213A>VTOPMed
gnomAD
rs2055892050214G>*TOPMed
rs928605978214G>ETOPMed
gnomAD
rs1373338735215A>DTOPMed
gnomAD
rs971280207216*>YTOPMed
gnomAD
VAR_023750
rs2230739
772I>M
found in 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population; reduced adenylyl cyclase activity in response to stimulation of the beta-adregnergic receptor by Mn(2+) agonists isoproteronol and NaF; increased albuterol-stimulated adenylyl cyclase activity in the presence of corticosteroid (UniProt)
Benign (UniProt)UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
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