AVP arginine vasopressin

Annotation transcript: NM_000490.5

200 unique variant annotations were identified in 142 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
20-3063283-GC-AG c.487_488delinsCT p.A163L Missense 3/3 - 1
20-3063283-GC-CA c.487_488delinsTG p.A163C Missense 3/3 - 1
20-3063296-C-T c.475G>A p.A159T Missense 3/3 - 1
20-3063308-G-A c.463C>T p.P155S Missense 3/3 - 1
20-3063309-CTC-ACA c.460_462delinsTGT p.E154C Missense 3/3 - 1
20-3063318-CC-GT c.452_453delinsAC p.G151D Missense 3/3 - 1
20-3063322-G-A c.449C>T p.A150V Missense 3/3 - 1
20-3063323-CCAG-C c.445_447del p.L149del InFrameDeletion 3/3 - 1
20-3063326-G-C c.445C>G p.L149V Missense 3/3 - 1
20-3063330-CAC-GAT c.439_441delinsATC p.V147I Missense 3/3 - 1
20-3063337-C-T c.434G>A p.R145Q Missense 3/3 - 1
20-3063338-G-C c.433C>G p.R145G Missense 3/3 - 1
20-3063340-A-T c.431T>A p.L144Q Missense 3/3 - 1
20-3063353-C-T c.418G>A p.G140R Missense 3/3 - 1
20-3063360-CC-GT c.410_411delinsAC p.G137D Missense 3/3 - 1
20-3063361-C-T c.410G>A p.G137E Missense 3/3 - 1
20-3063364-T-G c.407A>C p.D136A Missense 3/3 - 1
20-3063380-T-G c.391A>C p.N131H Missense 3/3 - 1
20-3063384-CCG-GTC c.385_387delinsGAC p.R129D Missense 3/3 - 1
20-3063385-CG-GC c.385_386delinsGC p.R129A Missense 3/3 - 1
20-3063386-G-C c.385C>G p.R129G Missense 3/3 - 1
20-3063390-G-C c.381C>G p.S127R Missense 3/3 - 4
20-3063390-G-T c.381C>A p.S127R Missense 3/3 - 4
20-3063392-T-G c.379A>C p.S127R Missense 3/3 - 4
20-3063391-CT-AA c.379_380delinsTT p.S127F Missense 3/3 - 1
20-3063391-CT-GC c.379_380delinsGC p.S127A Missense 3/3 - 1
20-3063391-CT-GG c.379_380delinsCC p.S127P Missense 3/3 - 1
20-3063394-G-T c.377C>A p.A126D Missense 3/3 - 1
20-3063397-CG-GC c.373_374delinsGC p.R125A Missense 3/3 - 1
20-3063415-C-T c.356G>A p.G119D Missense 3/3 - 1
20-3063419-C-A c.352G>T p.E118* Nonsense 3/3 - 1
20-3063421-C-T c.350G>A p.R117H Missense 3/3 - 1
20-3063423-G-C c.348C>G p.C116W Missense 3/3 - 2
20-3063424-CA-GC c.346_347delinsGC p.C116A Missense 3/3 - 1
20-3063425-A-C c.346T>G p.C116G Missense 3/3 - 1
20-3063425-A-G c.346T>C p.C116R Missense 3/3 - 1
20-3063428-C-A c.343G>T p.E115* Nonsense 3/3 - 1
20-3063433-T-C c.338A>G p.E113G Missense 3/3 - 1
20-3063434-C-A c.337G>T p.E113* Nonsense 3/3 - 1
20-3063434-C-T c.337G>A p.E113K Missense 3/3 - 1
20-3063441-G-T c.330C>A p.C110* Nonsense 3/3 - 1
20-3063442-C-T c.329G>A p.C110Y Missense 3/3 - 2
20-3063623-C-A c.322G>T p.E108* Nonsense 2/3 - 1
20-3063624-G-A c.321C>T p.D107= Synonymous 2/3 - 1
20-3063631-C-T c.314G>A p.C105Y Missense 2/3 - 1
20-3063631-C-G c.314G>C p.C105S Missense 2/3 - 1
20-3063632-A-G c.313T>C p.C105R Missense 2/3 - 1
20-3063632-A-T c.313T>A p.C105S Missense 2/3 - 1
20-3063634-C-A c.311G>T p.C104F Missense 2/3 - 1
20-3063635-A-C c.310T>G p.C104G Missense 2/3 - 1
20-3063643-A-G c.302T>C p.F101S Missense 2/3 - 1
20-3063646-GC-CA c.298_299delinsTG p.A100C Missense 2/3 - 1
20-3063647-C-G c.298G>C p.A100P Missense 2/3 - 1
20-3063648-G-A c.297C>T p.A99= Synonymous 2/3 - 1
20-3063648-G-C c.297C>G p.A99= Synonymous 2/3 - 1
20-3063648-GG-CT c.296_297delinsAG p.A99E Missense 2/3 - 1
20-3063648-G-T c.297C>A p.A99= Synonymous 2/3 - 1
20-3063650-C-G c.295G>C p.A99P Missense 2/3 - 1
20-3063651-G-T c.294C>A p.C98* Nonsense 2/3 - 4
20-3063652-CA-GC c.292_293delinsGC p.C98A Missense 2/3 - 1
20-3063652-C-G c.293G>C p.C98S Missense 2/3 - 1
20-3063653-A-C c.292T>G p.C98G Missense 2/3 - 1
20-3063653-A-T c.292T>A p.C98S Missense 2/3 - 1
20-3063655-C-G c.290G>C p.R97P Missense 2/3 - 1
20-3063656-G-A c.289C>T p.R97C Missense 2/3 - 1
20-3063658-C-A c.287G>T p.G96V Missense 2/3 - 1
20-3063658-C-T c.287G>A p.G96D Missense 2/3 - 1
20-3063659-C-A c.286G>T p.G96C Missense 2/3 - 2
20-3063665-T-A c.280A>T p.S94C Missense 2/3 - 1
20-3063667-C-G c.278G>C p.G93A Missense 2/3 - 1
20-3063668-C-A c.277G>T p.G93W Missense 2/3 - 1
20-3063669-G-C c.276C>G p.C92W Missense 2/3 - 1
20-3063669-G-T c.276C>A p.C92* Nonsense 2/3 - 1
20-3063670-C-T c.275G>A p.C92Y Missense 2/3 - 1
20-3063670-C-G c.275G>C p.C92S Missense 2/3 - 1
20-3063671-A-T c.274T>A p.C92S Missense 2/3 - 1
20-3063675-CTT-ACA c.268_270delinsTGT p.K90C Missense 2/3 - 1
20-3063677-T-A c.268A>T p.K90* Nonsense 2/3 - 1
20-3063682-C-A c.263G>T p.G88V Missense 2/3 - 2
20-3063681-GC-G c.263del p.G88Afs*24 Frameshift 2/3 - 1
20-3063683-C-G c.262G>C p.G88R Missense 2/3 - 2
20-3063683-C-T c.262G>A p.G88S Missense 2/3 - 2
20-3063685-G-A c.260C>T p.S87F Missense 2/3 - 1
20-3063685-G-T c.260C>A p.S87Y Missense 2/3 - 1
20-3063688-T-A c.257A>T p.Q86L Missense 2/3 - 1
20-3063691-CA-GC c.253_254delinsGC p.C85A Missense 2/3 - 1
20-3063694-G-A c.251C>T p.P84L Missense 2/3 - 1
20-3063697-G-A c.248C>T p.S83L Missense 2/3 - 1
20-3063697-GA-CC c.247_248delinsGG p.S83G Missense 2/3 - 1
20-3063698-A-C c.247T>G p.S83A Missense 2/3 - 2
20-3063703-A-G c.242T>C p.L81P Missense 2/3 - 2
20-3063706-T-A c.239A>T p.Y80F Missense 2/3 - 1
20-3063712-T-C c.233A>G p.E78G Missense 2/3 - 1
20-3063713-C-T c.232G>A p.E78K Missense 2/3 - 1
20-3063710-TCTC-T c.232_234del p.E78del InFrameDeletion 2/3 - 1
20-3063727-AG-GC c.217_218delinsGC p.L73A Missense 2/3 - 1
20-3063729-C-A c.216G>T p.A72= Synonymous 2/3 - 2
20-3063729-C-G c.216G>C p.A72= Synonymous 2/3 - 2
20-3063729-C-T c.216G>A p.A72= Synonymous 2/3 - 2
20-3063736-GC-AA c.208_209delinsTT p.A70F Missense 2/3 - 1
20-3063737-C-G c.208G>C p.A70P Missense 2/3 - 1
20-3063737-C-T c.208G>A p.A70T Missense 2/3 - 1
20-3063741-GC-G c.203del p.G68Afs*44 Frameshift 2/3 - 1
20-3063744-CAC-GTT c.199_201delinsAAC p.V67N Missense 2/3 - 1
20-3063745-A-G c.200T>C p.V67A Missense 2/3 - 1
20-3063751-C-A c.194G>T p.C65F Missense 2/3 - 1
20-3063751-CA-TC c.193_194delinsGA p.C65D Missense 2/3 - 1
20-3063751-C-G c.194G>C p.C65S Missense 2/3 - 1
20-3063752-A-T c.193T>A p.C65S Missense 2/3 - 2
20-3063757-A-G c.188T>C p.L63P Missense 2/3 - 1
20-3063759-C-A c.186G>T p.E62D Missense 2/3 - 1
20-3063759-C-G c.186G>C p.E62D Missense 2/3 - 1
20-3063765-C-A c.180G>T p.A60= Synonymous 2/3 - 2
20-3063765-C-G c.180G>C p.A60= Synonymous 2/3 - 2
20-3063765-C-T c.180G>A p.A60= Synonymous 2/3 - 2
20-3063766-GC-CA c.178_179delinsTG p.A60W Missense 2/3 - 1
20-3063769-CA-AC c.175_176delinsGT p.C59V Missense 2/3 - 1
20-3063769-C-T c.176G>A p.C59Y Missense 2/3 - 1
20-3063770-A-G c.175T>C p.C59R Missense 2/3 - 1
20-3063772-C-A c.173G>T p.C58F Missense 2/3 - 1
20-3063772-CA-GC c.172_173delinsGC p.C58A Missense 2/3 - 1
20-3063780-G-A c.165C>T p.P55= Synonymous 2/3 - 1
20-3063781-G-A c.164C>T p.P55L Missense 2/3 - 2
20-3063781-G-T c.164C>A p.P55H Missense 2/3 - 1
20-3063784-C-A c.161G>T p.G54V Missense 2/3 - 1
20-3063784-C-T c.161G>A p.G54E Missense 2/3 - 1
20-3063785-C-G c.160G>C p.G54R Missense 2/3 - 1
20-3063785-C-T c.160G>A p.G54R Missense 2/3 - 1
20-3063791-A-G c.154T>C p.C52R Missense 2/3 - 2
20-3063791-A-T c.154T>A p.C52S Missense 2/3 - 1
20-3063794-G-A c.151C>T p.R51C Missense 2/3 - 1
20-3063802-C-A c.143G>T p.G48V Missense 2/3 - 1
20-3063803-C-A c.142G>T p.G48C Missense 2/3 - 2
20-3063812-C-A c.133G>T p.G45C Missense 2/3 - 1
20-3063812-C-G c.133G>C p.G45R Missense 2/3 - 1
20-3063813-G-C c.132C>G p.C44W Missense 2/3 - 1
20-3063814-CA-TC c.130_131delinsGA p.C44D Missense 2/3 - 2
20-3063817-G-A c.128C>T p.P43L Missense 2/3 - 1
20-3063818-G-C c.127C>G p.P43A Missense 2/3 - 3
20-3063822-G-C c.123C>G p.C41W Missense 2/3 - 1
20-3064949-C-T c.120+252G>A - IntronicSNV - 1/2 6
20-3065205-CT-GC c.115_116delinsGC p.R39A Missense 1/3 - 1
20-3065207-CAG-GTC c.112_114delinsGAC p.L38D Missense 1/3 - 1
20-3065208-AG-TC c.112_113delinsGA p.L38E Missense 1/3 - 1
20-3065213-CAG-AAA c.106_108delinsTTT p.L36F Missense 1/3 - 3
20-3065213-CAG-GTC c.106_108delinsGAC p.L36D Missense 1/3 - 1
20-3065214-AG-GC c.106_107delinsGC p.L36A Missense 1/3 - 2
20-3065217-T-C c.104A>G p.D35G Missense 1/3 - 1
20-3065218-C-A c.103G>T p.D35Y Missense 1/3 - 1
20-3065220-GA-CC c.100_101delinsGG p.S34G Missense 1/3 - 1
20-3065225-G-A c.96C>T p.A32= Synonymous 1/3 - 1
20-3065225-G-C c.96C>G p.A32= Synonymous 1/3 - 1
20-3065225-GG-CT c.95_96delinsAG p.A32E Missense 1/3 - 1
20-3065225-G-T c.96C>A p.A32= Synonymous 1/3 - 1
20-3065226-G-T c.95C>A p.A32D Missense 1/3 - 1
20-3065234-GCC-CCA c.85_87delinsTGG p.G29W Missense 1/3 - 1
20-3065234-GCC-TCA c.85_87delinsTGA p.G29* Nonsense 1/3 - 1
20-3065235-CC-AG c.85_86delinsCT p.G29L Missense 1/3 - 1
20-3065235-CC-TA c.85_86delinsTA p.G29Y Missense 1/3 - 1
20-3065236-C-T c.85G>A p.G29S Missense 1/3 - 1
20-3065241-CT-GC c.79_80delinsGC p.R27A Missense 1/3 - 1
20-3065244-G-A c.77C>T p.P26L Missense 1/3 - 1
20-3065248-A-C c.73T>G p.C25G Missense 1/3 - 1
20-3065252-C-T c.69G>A p.Q23= Synonymous 1/3 - 1
20-3065254-GGAA-G c.64_66del p.F22del InFrameDeletion 1/3 - 1
20-3065259-T-G c.62A>C p.Y21S Missense 1/3 - 1
20-3065260-A-G c.61T>C p.Y21H Missense 1/3 - 1
20-3065265-G-A c.56C>T p.A19V Missense 1/3 - 1
20-3065265-G-T c.56C>A p.A19E Missense 1/3 - 2
20-3065266-C-T c.55G>A p.A19T Missense 1/3 - 2
20-3065268-GA-TC c.52_53inv p.S18D Missense 1/3 - 1
20-3065268-G-C c.53C>G p.S18C Missense 1/3 - 2
20-3065269-A-G c.52T>C p.S18P Missense 1/3 - 1
20-3065266-CGGA-C c.52_54del p.S18del InFrameDeletion 1/3 - 2
20-3065271-G-A c.50C>T p.S17F Missense 1/3 - 1
20-3065271-G-T c.50C>A p.S17Y Missense 1/3 - 2
20-3065274-AA-GG c.46_47delinsCC p.F16P Missense 1/3 - 3
20-3065276-G-A c.45C>T p.A15= Synonymous 1/3 - 1
20-3065276-G-C c.45C>G p.A15= Synonymous 1/3 - 1
20-3065276-GG-CT c.44_45delinsAG p.A15E Missense 1/3 - 1
20-3065276-G-T c.45C>A p.A15= Synonymous 1/3 - 1
20-3065277-GC-CA c.43_44delinsTG p.A15C Missense 1/3 - 1
20-3065280-A-G c.41T>C p.L14P Missense 1/3 - 1
20-3065280-AG-GC c.40_41delinsGC p.L14A Missense 1/3 - 1
20-3065283-AG-GC c.37_38delinsGC p.L13A Missense 1/3 - 4
20-3065283-AG-TC c.37_38delinsGA p.L13E Missense 1/3 - 2
20-3065285-GC-CT c.35_36delinsAG p.G12E Missense 1/3 - 1
20-3065286-C-A c.35G>T p.G12V Missense 1/3 - 4
20-3065286-C-G c.35G>C p.G12A Missense 1/3 - 1
20-3065286-C-T c.35G>A p.G12D Missense 1/3 - 3
20-3065287-C-A c.34G>T p.G12C Missense 1/3 - 1
20-3065287-C-T c.34G>A p.G12S Missense 1/3 - 1
20-3065288-GAG-CTC c.31_33inv p.L11E Missense 1/3 - 1
20-3065292-AA-GC c.28_29delinsGC p.F10A Missense 1/3 - 2
20-3065304-AGCATGGTGTCAG-A c.5_16del p.PDTM2_?5 InFrameDeletion 1/3 - 1
20-3065309-G-A c.12C>T p.T4= Synonymous 1/3 - 1
20-3065309-G-C c.12C>G p.T4= Synonymous 1/3 - 1
20-3065309-G-T c.12C>A p.T4= Synonymous 1/3 - 1
20-3065307-ATGG-A c.11_13del p.T4del InFrameDeletion 1/3 - 1
20-3065319-CA-C c.2del p.M1? CdsStartDeletion 1/3 - 1