All variants in the HTR3B gene

University of Heidelberg Serotonin receptor variant database
Information The variants shown are described using the NM_006028.4 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/? 1 c.-381T>C r.(?) p.(=) - - association g.113775275T>C - c.-67-u314A>G - HTR3B_000001 - PubMed: Levran 2008 - rs3758987 Germline - 0.23 +BsiHKAI,Bsp1286I,BtsI,BtsIMutI,TspRI / -CviQI,RsaI,ScaI 0 - Louise Amlie-Wolf
+?/? 1 c.-102_-100del r.(?) p.(=) - - association g.113775554_113775556del g.113904832_113904834del - - HTR3B_000002 - PubMed: Frank 2004 - rs45460698 Germline - 0.15 -HpyAV 0 - Louise Amlie-Wolf
+?/? 1 c.-102_-100del r.(?) p.(=) - - association g.113775554_113775556del g.113904832_113904834del -106_-104delGGA - HTR3B_000002 - PubMed: Yamada 2006 - rs45460698 Germline - 0.26 -HpyAV 0 - Louise Amlie-Wolf
?/? 1 c.-102_-100del r.(?) p.(=) - - VUS g.113775554_113775556del g.113904832_113904834del -99_-102delAAG - HTR3B_000002 - PubMed: Tremblay 2003 - rs45460698 Germline - 0.12 -HpyAV 0 - Louise Amlie-Wolf
?/? 1 c.-102_-100del r.(?) p.(=) - - VUS g.113775554_113775556del g.113904832_113904834del c.-104_-102delAGA - HTR3B_000002 - PubMed: Hammer 2009 - rs45460698 Germline - 0.145 (0.099-0.202) -HpyAV 0 - Louise Amlie-Wolf
?/? 1 c.-102_-100del r.(?) p.(=) - - VUS g.113775554_113775556del g.113904832_113904834del c.-104_-102delAGA - HTR3B_000002 - Niesler-Lab Kapeller PhD Thesis 2009 - rs45460698 Germline - 0.082 (0.047-0.132 -HpyAV 0 - Louise Amlie-Wolf
+?/? 1 c.-102_-100del r.(?) p.(=) - - association g.113775554_113775556del g.113904832_113904834del c.-104_-102delAGA - HTR3B_000002 - PubMed: Ji 2008 - rs45460698 Germline - 0.13 -HpyAV 0 - Louise Amlie-Wolf
?/? 1 c.-102_-100del r.(?) p.(=) - - VUS g.113775554_113775556del g.113904832_113904834del c.-104_-102delAGA ; (-99_-102delAAG ; {PMID12775740:Tremblay et al. 2003}-106_-104delGGA ; ({PMID16487942:Yamada et al. 2006})) - HTR3B_000002 - PubMed: Lehmann 2013 - rs45460698 Germline - - -HpyAV 0 - Louise Amlie-Wolf
?/? 1 c.-102_-100del r.(?) p.(=) - - VUS g.113775554_113775556del g.113904832_113904834del c.-104_-102delAGA ; (-99_-102delAAG ; {PMID12775740:Tremblay et al. 2003}-106_-104delGGA ; ({PMID16487942:Yamada et al. 2006})) - HTR3B_000002 affects expression level:c.-100_-102delAAG shows increased HTR3B-Promoter activity in luciferase promoter assays PubMed: Kim 2015 - rs45460698 Germline - 0.13 -HpyAV 0 - Louise Amlie-Wolf
+?/? - c.-102_-100del - p.(=) - - NA g.113775554_113775556del g.113904832_113904834del - - HTR3B_000002 - PubMed: Meineke 2008 - - In vitro (cloned) - - - 0 - Louise Amlie-Wolf
?/? 1 c.-3G>A r.(?) p.(=) - - VUS g.113775653G>A g.113904931G>A c.-3G>A - HTR3B_000003 n/a PubMed: Hammer 2009 - - Germline - 0.025 (0.008-0.058) -BsaJI,BssKI,BstNI,LpnPI,PspGI,ScrFI,StyD4I 0 - Louise Amlie-Wolf
?/? 1i c.52+2055T>G r.(?) p.(=) - - VUS g.113777762T>G g.113907040T>G rs10502180 - HTR3B_000018 - PubMed: Ducci 2009 - rs10502180 Germline - 0.01-0.31 +AflIII, HpyCH4IV 0 - Louise Amlie-Wolf
?/? 2i c.213+804T>C r.(?) p.(=) - - VUS g.113780981T>C g.113910259T>C rs11606194 - HTR3B_000015 - PubMed: Ducci 2009 - rs11606194 Germline - 0.07-0.10 +MnlI 0 - Louise Amlie-Wolf
?/? 2i c.213+6362C>T r.(?) p.(=) - - VUS g.113786539C>T g.113915817C>T rs4938056 - HTR3B_000014 - PubMed: Archer 2014 - rs4938056 Germline - 0.34 - 0 - Louise Amlie-Wolf
?/? 2i c.214-438G>A r.(?) p.(=) - - VUS g.113801668G>A g.113930946G>A rs17116121 - HTR3B_000005 - PubMed: Ducci 2009 - rs17116121 Germline - 0.03-0.10 - 0 - Louise Amlie-Wolf
?/? 4i c.368+11C>T r.(?) p.(=) - - VUS g.113802600C>T g.113931878C>T c.? ; (IVS4+11C>T) - HTR3B_000004 n/a PubMed: Kapeller 2008 - rs45597437 Germline - 0.022 (0.006-0.055) +BfaI / -BsrI,BtsIMutI,LpnPI,TspRI 0 - Louise Amlie-Wolf
+?/? 5 c.386A>C r.(?) p.(Tyr129Ser) N-Term - association g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - PubMed: Frank 2004 - rs1176744 Germline - 11/49 BPAD. 34/78 C +AlwI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI 0 - Louise Amlie-Wolf
+?/? 5 c.386A>C r.(?) p.(Tyr129Ser) N-Term - association g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - PubMed: Yamada 2006 - rs1176744 Germline - 0.263 Asians +AlwI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI 0 - Louise Amlie-Wolf
+?/? 5 c.386A>C r.(?) p.(Tyr129Ser) N-Term - association g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - PubMed: Tremblay 2003 - rs1176744 Germline - 46.5% C +AlwI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI 0 - Louise Amlie-Wolf
+?/? 5 c.386A>C r.(?) p.(Tyr129Ser) N-Term - association g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - Aibiki 2007 (Meeting Abstract DDW 2007) - rs1176744 Germline - 0.25 +AlwI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI 0 - Louise Amlie-Wolf
+?/? 5 c.386A>C r.(?) p.(Tyr129Ser) N-Term - association g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - Fukudo meeting abstract DDW2009 - rs1176744 Germline - 0.25 +AlwI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI 0 - Louise Amlie-Wolf
+?/? 5 c.386A>C r.(?) p.(Tyr129Ser) N-Term - association g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - PubMed: Hammer 2009 - rs1176744 Germline - 0.267 (0.223-0.314) +AlwI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) N-Term - VUS g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - Niesler-Lab Kapeller PhD Thesis 2009 - rs1176744 Germline - 0.299 (0.234-0.371) +AlwI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) - - VUS g.113803028A>C g.113932306A>C c.386A>C , p.Y129S (rs1176744) - HTR3B_000005 - PubMed: Sugai 2006 - rs1176744 Germline - 0.36 +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) N-Term - VUS g.113803028A>C g.113932306A>C c.386A>C , p.Y129S - HTR3B_000005 - PubMed: Hammer 2012 - rs1176744 Germline - 0.27-0.43 +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) - - VUS g.113803028A>C g.113932306A>C c.386A>C , p.Y129S (rs1176744) - HTR3B_000005 - PubMed: Kim 2015 - rs1176744 Germline - 0.23 +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) - - VUS g.113803028A>C g.113932306A>C rs1176744 - HTR3B_000005 - PubMed: Ducci 2009 - rs1176744 Germline - 0.27-0.38 +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) - - VUS g.113803028A>C g.113932306A>C c.386A>C , p.Y129S; rs1176744 - HTR3B_000005 - {PMID20602613 Enoch e al., 2011} - rs1176744 Germline - - +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) - - VUS g.113803028A>C g.113932306A>C c.386A>C , p.Y129S; rs1176744 - HTR3B_000005 - PubMed: Lehmann 2013 - rs1176744 Germline - - +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) - - VUS g.113803028A>C g.113932306A>C rs1176744:AC(HTR3B) - HTR3B_000005 - PubMed: Seneviratne 2013 - rs1176744 Germline - - +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI 0 - Louise Amlie-Wolf
?/? 5 c.386A>C r.(?) p.(Tyr129Ser) - - VUS g.113803028A>C g.113932306A>C c.386A>C , p.Y129S; rs1176744 - HTR3B_000005 - PubMed: Horjales-Araujo 2015 - rs1176744 Germline - - +AlwI, BfuCI, BstYI, DpnI, DpnII, MboI, Sau3AI 0 - Louise Amlie-Wolf
+?/? - c.386A>C - p.Tyr129Ser - - NA g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - PubMed: Walstab 2008 - - In vitro (cloned) - - - 0 - Louise Amlie-Wolf
+?/? - c.386A>C - p.Tyr129Ser - - NA g.113803028A>C g.113932306A>C p.Y129S - HTR3B_000005 - PubMed: Krzywkowski 2008a - - In vitro (cloned) - - - 0 - Louise Amlie-Wolf
?/? 5 c.428T>C r.(?) p.(Ile143Thr) N-Term - VUS g.113803070T>C g.113932348T>C p.I143T - HTR3B_000006 - PubMed: Yamada 2006 - - Germline - 0.003 MAF +BspCNI,BtsIMutI,DdeI,TspRI 0 - Louise Amlie-Wolf
?/? 5 c.462G>A r.(?) p.(Ala154=) N-Term - VUS g.113803104G>A g.113932382G>A p.A154A - HTR3B_000007 - PubMed: Hammer 2009 - rs2276305 Germline - 0.003 (0.000-0.015) +CviAII,FatI,NlaIII,NspI,SphI / -BsgI 0 - Louise Amlie-Wolf
?/? 5 c.462G>A r.(?) p.(Ala154=) - - VUS g.113803104G>A g.113932382G>A rs2276305:NM_006028.4:c.462G>A, NM_006028.4:c.462G>C, NM_006028.4:T NP_006019.1:p.Ala154, XM_011543063.1:c.429G>A, XM_011543063.1:c.429G>C - HTR3B_000007 - PubMed: Seneviratne 2013 - rs2276305 Germline - 0.006 +CviAII, FatI, NlaIII, NspI, SphI; -BsgI 0 - Louise Amlie-Wolf
?/? 5 c.462G>C r.(?) p.(Ala154=) - - VUS g.113803104G>C g.113932382G>C rs2276305:NM_006028.4:c.462G>A, NM_006028.4:c.462G>C, NM_006028.4:T NP_006019.1:p.Ala154, XM_011543063.1:c.429G>A, XM_011543063.1:c.429G>C - HTR3B_000016 - PubMed: Seneviratne 2013 - rs2276305 Germline - 0.006 +PstI, SfcI; -BsgI 0 - Louise Amlie-Wolf
?/? 5 c.462G>T r.(=) p.(=) - - VUS g.113803104G>T g.113932382G>T 1395A>G - HTR3B_000017 - PubMed: Seneviratne 2013 - rs2276305 Germline - 0.006 -BsgI 0 - Louise Amlie-Wolf
?/? 5 c.466A>C r.(?) p.(Ser156Arg) N-Term, Cys-Loop - VUS g.113803108A>C g.113932386A>C p.S156R - HTR3B_000008 - Niesler-Lab Kapeller PhD Thesis 2009 - - Germline - 0.033 (0.012-0.070 +BceAI / -BsgI,HpyCH4V 0 - Louise Amlie-Wolf
?/? 5 c.466A>C r.(?) p.(Ser156Arg) N-Term, Cys-Loop - VUS g.113803108A>C g.113932386A>C p.S156R - HTR3B_000008 - PubMed: Frank 2004 - - Germline - 0.008 +BceAI / -BsgI,HpyCH4V 0 - Louise Amlie-Wolf
?/? - c.466A>C - p.Ser156Arg - - NA g.113803108A>C g.113932386A>C p.S156R - HTR3B_000008 - PubMed: Walstab 2008 - - In vitro (cloned) - - - 0 - Louise Amlie-Wolf
?/? - c.466A>C - p.Ser156Arg - - NA g.113803108A>C g.113932386A>C p.S156R - HTR3B_000008 - PubMed: Krzywkowski 2008 - - In vitro (cloned) - - - 0 - Louise Amlie-Wolf
?/? 6 c.547G>A r.(?) p.(Val183Ile) N-Term - VUS g.113803666G>A g.113932944G>A p.V183I - HTR3B_000009 reduced 5-HT maximum response (50 % of control) plausibly caused by decreased cell surface expression of heteromeric receptor PubMed: Frank 2004 - rs17116138 Germline - 6/49 BPAD. 1/61 C -AccI,Hpy166II,HpyCH4IV 0 - Louise Amlie-Wolf
?/? 6 c.547G>A r.(?) p.(Val183Ile) N-Term - VUS g.113803666G>A g.113932944G>A p.V183I - HTR3B_000009 reduced 5-HT maximum response (50 % of control) plausibly caused by decreased cell surface expression of heteromeric receptor PubMed: Hammer 2009 - rs17116138 Germline - 0.030 (0.011-0.064) -AccI,Hpy166II,HpyCH4IV 0 - Louise Amlie-Wolf
?/? 6 c.547G>A r.(?) p.(Val183Ile) - - VUS g.113803666G>A g.113932944G>A - - HTR3B_000009 - PubMed: Ducci 2009 - rs17116138 Germline - 0.0-0.10 -AccI, Hpy166II, HpyCH4IV 0 - Louise Amlie-Wolf
?/? 6 c.667G>A r.(?) p.(Ala223Thr) N-Term - VUS g.113803786G>A g.113933064G>A p.A223T - HTR3B_000010 - PubMed: Tremblay 2003 - - Germline - 0.002 +BsrI,BtsIMutI,TspRI / -AfeI,HaeII,HhaI,HinP1I 0 - Louise Amlie-Wolf
?/? - c.667G>A - p.Ala223Thr - - NA g.113803786G>A g.113933064G>A p.A223T - HTR3B_000010 - PubMed: Walstab 2008 - - In vitro (cloned) - - - 0 - Louise Amlie-Wolf
?/? - c.667G>A - p.Ala223Thr - - NA g.113803786G>A g.113933064G>A p.A223T - HTR3B_000010 - PubMed: Krzywkowski 2008 - - In vitro (cloned) - - - 0 - Louise Amlie-Wolf
?/? 6i c.696+40C>A r.(?) p.(=) - - VUS g.113803855C>A g.113933133C>A c.? ; (IVS6+40C>A) - HTR3B_000011 - PubMed: Hammer 2009 - rs45595034 Germline - 0.025 (0.008-0.058) +CspCI (2) / -BseYI,BslI,PflMI 0 - Louise Amlie-Wolf
?/? 6i c.696+72A>G r.(?) p.(=) - - VUS g.113803887A>G g.113933165A>G c.? ; (IVS6+72A>G) - HTR3B_000012 - PubMed: Hammer 2009 - rs2276307 Germline - 0.025 (0.008-0.058) -ApoI,MluCI 0 - Louise Amlie-Wolf
+?/? 6i c.696+72A>G r.(?) p.(=) - - association g.113803887A>G g.113933165A>G (IVS6+72A>G) - HTR3B_000012 - PubMed: Ruano 2007 - rs2276307 Germline - 0.17-0.24 -ApoI,MluCI 0 - Louise Amlie-Wolf
?/? 6i c.696+72A>G r.(?) p.(=) - - VUS g.113803887A>G g.113933165A>G rs2276307 - HTR3B_000012 - PubMed: Ducci 2009 - rs2276307 Germline - 0.17-0.31 -ApoI, MluCI 0 - Louise Amlie-Wolf
?/? 6i c.696+161C>G r.(?) p.(=) - - VUS g.113803976C>G g.113933254C>G c.? ; (IVS6+161C>G) - HTR3B_000013 - PubMed: Hammer 2009 - rs2276308 Germline - 0.190 (0.138-0.251) - 0 - Louise Amlie-Wolf
?/? 6i c.696+3792G>A r.(?) p.(=) - - VUS g.113807607G>A g.113936885G>A IVS6+3792A>G - HTR3B_000019 - PubMed: Lehmann 2013 - rs3782025 Germline - - -EcoO109I, HaeIII, Sau96I 0 - Louise Amlie-Wolf
?/? 6i c.696+3792G>A r.(?) p.(=) - - VUS g.113807607G>A g.113936885G>A rs3782025 - HTR3B_000019 - PubMed: Ducci 2009 - rs3782025 Germline - 0.35-0.48 -EcoO109I, HaeIII, Sau96I 0 - Louise Amlie-Wolf
?/? 6i c.696+3792G>A r.(?) p.(=) - - VUS g.113807607G>A g.113936885G>A IVS6+3792A>G - HTR3B_000019 - PubMed: Ducci 2009 - rs3782025 Germline - 0.35-0.48 -EcoO109I, HaeIII, Sau96I 0 - Louise Amlie-Wolf
?/? 6i c.696+3792G>A r.(?) p.(=) - - VUS g.113807607G>A g.113936885G>A rs3782025:AG(HTR3B). - HTR3B_000019 - PubMed: Seneviratne 2013 - rs3782025 Germline - - -EcoO109I, HaeIII, Sau96I 0 - Louise Amlie-Wolf
?/? 6i c.697-91T>A r.(?) p.(=) - - VUS g.113813613T>A g.113942891T>A rs1176761 - HTR3B_000020 - PubMed: Ducci 2009 - rs1176761 Germline - 0.03-0.10 +BsmFI; -BbsI, MboII 0 - Louise Amlie-Wolf
./. - c.871C>T r.(?) p.(Gln291*) - - VUS g.113813878C>T g.113943156C>T - - HTR3B_000023 - PubMed: Lhota 2016 - - Germline - - - 0 - Zdenek Kleibl
?/? 9 c.*69A>G r.(=) p.(=) TM4 - VUS g.113816928A>G g.113946206A>G c5 201_ 202delCA, 27721-22, rs34236293 - HTR3B_000021 - PubMed: Rüffert 2009 - - Germline - 0.342 -MseI 0 - Louise Amlie-Wolf
?/? 9 c.*69A>G r.(=) p.(=) TM4 - VUS g.113816928A>G g.113946206A>G c6-137CT - HTR3B_000021 - PubMed: Rüffert 2009 - - Germline - 0.005 -MseI 0 - Louise Amlie-Wolf
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