STRADB

STRADB STE20 related adaptor beta

Annotation transcript: NM_018571.6

287 unique variant annotations were identified in 206 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
2-202316484-A-G c.-273A>G - 5_prime_UTR_variant 1/12 - 1
2-202316586-A-C c.-171A>C - 5_prime_UTR_variant 1/12 - 1
2-202316586-A-G c.-171A>G - 5_prime_UTR_variant 1/12 - 1
2-202318941-C-A c.-95-528C>A - IntronicSNV - 1/11 1
2-202323512-C-T c.18C>T p.C6= Synonymous 3/12 - 1
2-202323533-A-G c.39A>G p.Q13= Synonymous 3/12 - 2
2-202323537-G-T c.43G>T p.E15* Nonsense 3/12 - 1
2-202323545-C-A c.51C>A p.L17= Synonymous 3/12 - 1
2-202323545-C-G c.51C>G p.L17= Synonymous 3/12 - 1
2-202323545-C-T c.51C>T p.L17= Synonymous 3/12 - 1
2-202323546-AG-CA c.52_53delinsCA p.R18Q Missense 3/12 - 1
2-202323558-C-T c.64C>T p.Q22* Nonsense 3/12 - 1
2-202323568-C-G c.74C>G p.T25S Missense 3/12 - 1
2-202323572-T-C c.78T>C p.S26= Synonymous 3/12 - 1
2-202323575-C-G c.81C>G p.I27M Missense 3/12 - 1
2-202323579-C-A c.85C>A p.Q29K Missense 3/12 - 1
2-202323583-A-T c.89A>T p.Y30F Missense 3/12 - 1
2-202323584-C-A c.90C>A p.Y30* Nonsense 3/12 - 1
2-202323584-C-G c.90C>G p.Y30* Nonsense 3/12 - 1
2-202325681-A-G c.93+2094A>G - IntronicSNV - 3/11 1
2-202334688-A-G c.106A>G p.T36A Missense 4/12 - 1
2-202334695-C-T c.113C>T p.S38F Missense 4/12 - 7
2-202334703-C-T c.121C>T p.R41C Missense 4/12 - 3
2-202334704-G-A c.122G>A p.R41H Missense 4/12 - 2
2-202334706-C-T c.124C>T p.P42S Missense 4/12 - 1
2-202334707-C-T c.125C>T p.P42L Missense 4/12 - 3
2-202334713-C-T c.131C>T p.T44I Missense 4/12 - 1
2-202334718-G-A c.136G>A p.A46T Missense 4/12 - 1
2-202334721-A-G c.139A>G p.S47G Missense 4/12 - 1
2-202334733-T-C c.151T>C p.C51R Missense 4/12 - 1
2-202334748-T-G c.166T>G p.S56A Missense 4/12 - 1
2-202337684-G-A c.200G>A p.G67E Missense 5/12 - 1
2-202337686-T-G c.202T>G p.F68V Missense 5/12 - 1
2-202337697-G-C c.213G>C p.L71F Missense 5/12 - 2
2-202337697-G-T c.213G>T p.L71F Missense 5/12 - 1
2-202337702-C-T c.218C>T p.S73F Missense 5/12 - 3
2-202337705-T-A c.221T>A p.V74D Missense 5/12 - 1
2-202337710-C-A c.226C>A p.L76I Missense 5/12 - 2
2-202337714-C-T c.230C>T p.A77V Missense 5/12 - 1
2-202337715-A-G c.231A>G p.A77= Synonymous 5/12 - 1
2-202337716-C-A c.232C>A p.R78= Synonymous 5/12 - 1
2-202337718-G-C c.234G>C p.R78= Synonymous 5/12 - 1
2-202337718-G-T c.234G>T p.R78= Synonymous 5/12 - 1
2-202337717-G-C c.233G>C p.R78P Missense 5/12 - 1
2-202337718-G-A c.234G>A p.R78= Synonymous 5/12 - 3
2-202337726-C-T c.242C>T p.P81L Missense 5/12 - 1
2-202337727-C-T c.243C>T p.P81= Synonymous 5/12 - 4
2-202337729-C-T c.245C>T p.T82I Missense 5/12 - 2
2-202337730-A-C c.246A>C p.T82= Synonymous 5/12 - 22
2-202337730-A-G c.246A>G p.T82= Synonymous 5/12 - 24
2-202337730-A-T c.246A>T p.T82= Synonymous 5/12 - 17
2-202337731-G-A c.247G>A p.G83R Missense 5/12 - 2
2-202337731-G-C c.247G>C p.G83R Missense 5/12 - 1
2-202337735-C-T c.251C>T p.T84I Missense 5/12 - 3
2-202337748-A-G c.264A>G p.I88M Missense 5/12 - 1
2-202337751-A-G c.267A>G p.K89= Synonymous 5/12 - 1
2-202337760-T-C c.276T>C p.N92= Synonymous 5/12 - 1
2-202337761-C-T c.277C>T p.L93= Synonymous 5/12 - 1
2-202337776-G-T c.292G>T p.E98* Nonsense 5/12 - 1
2-202337783-G-A c.299G>A p.R100H Missense 5/12 - 1
2-202337785-C-G c.301C>G p.L101V Missense 5/12 - 1
2-202337785-C-T c.301C>T p.L101= Synonymous 5/12 - 1
2-202337791-G-C c.307G>C p.A103P Missense 5/12 - 1
2-202337799-G-T c.315G>T p.Q105H Missense 5/12 - 1
2-202339374-C-T c.320C>T p.A107V Missense 6/12 - 6
2-202339376-G-A c.322G>A p.V108M Missense 6/12 - 1
2-202339376-G-T c.322G>T p.V108L Missense 6/12 - 1
2-202339382-C-G c.328C>G p.L110V Missense 6/12 - 2
2-202339386-C-A c.332C>A p.S111Y Missense 6/12 - 1
2-202339386-C-T c.332C>T p.S111F Missense 6/12 - 1
2-202339393-T-G c.339T>G p.F113L Missense 6/12 - 1
2-202339397-C-T c.343C>T p.R115W Missense 6/12 - 4
2-202339415-A-G c.361A>G p.T121A Missense 6/12 - 1
2-202339422-G-GAT c.368_369insAT p.W123* Nonsense 6/12 - 2
2-202339421-TG-T c.369del p.W123* Frameshift 6/12 - 1
2-202339431-T-C c.377T>C p.F126S Missense 6/12 - 1
2-202339457-A-G c.403A>G p.I135V Missense 6/12 - 1
2-202339460-T-C c.406T>C p.S136P Missense 6/12 - 1
2-202339463-C-T c.409C>T p.P137S Missense 6/12 - 2
2-202339468-T-C c.414T>C p.F138= Synonymous 6/12 - 2
2-202339480-T-A c.424+2T>A - IntronicSNV - 6/11 1
2-202339805-GC-G c.424+333del - IntronicDeletion - 6/11 1
2-202340342-G-T c.425G>T p.G142V Missense 7/12 - 1
2-202340346-A-C c.429A>C p.S143= Synonymous 7/12 - 1
2-202340346-A-G c.429A>G p.S143= Synonymous 7/12 - 1
2-202340346-A-T c.429A>T p.S143= Synonymous 7/12 - 1
2-202340348-C-T c.431C>T p.A144V Missense 7/12 - 1
2-202340350-A-C c.433A>C p.S145R Missense 7/12 - 1
2-202340361-G-C c.444G>C p.L148F Missense 7/12 - 1
2-202340361-G-T c.444G>T p.L148F Missense 7/12 - 2
2-202340363-G-A c.446G>A p.R149K Missense 7/12 - 1
2-202340366-C-T c.449C>T p.T150I Missense 7/12 - 3
2-202340368-T-C c.451T>C p.Y151H Missense 7/12 - 2
2-202340372-T-C c.455T>C p.F152S Missense 7/12 - 1
2-202340374-C-T c.457C>T p.P153S Missense 7/12 - 6
2-202340380-G-T c.463G>T p.G155* Nonsense 7/12 - 1
2-202340381-G-A c.464G>A p.G155E Missense 7/12 - 5
2-202340385-G-T c.468G>T p.M156I Missense 7/12 - 1
2-202340386-A-G c.469A>G p.S157G Missense 7/12 - 1
2-202340386-AG-TT c.469_470delinsTT p.S157F Missense 7/12 - 1
2-202340388-T-C c.471T>C p.S157= Synonymous 7/12 - 1
2-202340410-C-A c.493C>A p.L165I Missense 7/12 - 1
2-202340415-T-C c.498T>C p.F166= Synonymous 7/12 - 1
2-202340421-C-A c.504C>A p.A168= Synonymous 7/12 - 1
2-202340421-C-G c.504C>G p.A168= Synonymous 7/12 - 1
2-202340421-C-T c.504C>T p.A168= Synonymous 7/12 - 1
2-202340423-T-A c.506T>A p.V169E Missense 7/12 - 1
2-202340424-G-A c.507G>A p.V169= Synonymous 7/12 - 1
2-202340433-G-T c.516G>T p.L172F Missense 7/12 - 1
2-202340434-A-G c.517A>G p.N173D Missense 7/12 - 1
2-202340440-C-A c.523C>A p.L175M Missense 7/12 - 4
2-202340442-G-A c.525G>A p.L175= Synonymous 7/12 - 1
2-202340446-C-T c.529C>T p.Q177* Nonsense 7/12 - 1
2-202340447-A-T c.530A>T p.Q177L Missense 7/12 - 2
2-202340452-G-A c.535G>A p.G179S Missense 7/12 - 5
2-202340461-C-T c.544C>T p.H182Y Missense 7/12 - 1
2-202340566-A-G c.548+101A>G - IntronicSNV - 7/11 1
2-202340747-G-A c.548+282G>A - IntronicSNV - 7/11 1
2-202341136-A-G c.548+671A>G - IntronicSNV - 7/11 1
2-202341136-A-T c.548+671A>T - IntronicSNV - 7/11 1
2-202342343-AG-TT c.550_551delinsTT p.S184F Missense 8/12 - 1
2-202342343-A-C c.550A>C p.S184R Missense 8/12 - 1
2-202342345-T-A c.552T>A p.S184R Missense 8/12 - 1
2-202342345-T-G c.552T>G p.S184R Missense 8/12 - 1
2-202342346-A-T c.553A>T p.I185F Missense 8/12 - 1
2-202342363-C-T c.570C>T p.I190= Synonymous 8/12 - 1
2-202342371-C-A c.578C>A p.S193Y Missense 8/12 - 1
2-202342374-G-T c.581G>T p.G194V Missense 8/12 - 1
2-202342382-C-G c.589C>G p.L197V Missense 8/12 - 1
2-202342391-C-A c.598C>A p.L200I Missense 8/12 - 1
2-202342393-C-A c.600C>A p.L200= Synonymous 8/12 - 1
2-202342393-C-G c.600C>G p.L200= Synonymous 8/12 - 3
2-202342393-C-T c.600C>T p.L200= Synonymous 8/12 - 1
2-202342395-C-G c.602C>G p.S201C Missense 8/12 - 1
2-202342400-C-T c.607C>T p.L203= Synonymous 8/12 - 4
2-202342402-G-A c.609G>A p.L203= Synonymous 8/12 - 19
2-202342402-G-C c.609G>C p.L203= Synonymous 8/12 - 19
2-202342402-G-T c.609G>T p.L203= Synonymous 8/12 - 22
2-202342406-C-T c.613C>T p.H205Y Missense 8/12 - 2
2-202342409-C-T c.616C>T p.L206= Synonymous 8/12 - 2
2-202342411-G-A c.618G>A p.L206= Synonymous 8/12 - 1
2-202342411-G-C c.618G>C p.L206= Synonymous 8/12 - 1
2-202342411-G-T c.618G>T p.L206= Synonymous 8/12 - 1
2-202342426-G-A c.633G>A p.K211= Synonymous 8/12 - 1
2-202342431-GA-AC c.638_639delinsAC p.G213D Missense 8/12 - 1
2-202342435-G-A c.642G>A p.Q214= Synonymous 8/12 - 1
2-202342436-A-T c.643A>T p.R215W Missense 8/12 - 1
2-202342442-AG-CA c.649_650delinsCA p.R217Q Missense 8/12 - 1
2-202342442-A-T c.649A>T p.R217W Missense 8/12 - 1
2-202342443-G-A c.650G>A p.R217K Missense 8/12 - 1
2-202342444-G-C c.651G>C p.R217S Missense 8/12 - 2
2-202342444-G-T c.651G>T p.R217S Missense 8/12 - 2
2-202342446-C-T c.653C>T p.A218V Missense 8/12 - 1
2-202342448-G-A c.655G>A p.V219M Missense 8/12 - 1
2-202342451-T-C c.658T>C p.Y220H Missense 8/12 - 3
2-202342452-A-G c.659A>G p.Y220C Missense 8/12 - 3
2-202342452-A-T c.659A>T p.Y220F Missense 8/12 - 2
2-202342454-G-C c.661G>C p.D221H Missense 8/12 - 3
2-202342455-A-G c.662A>G p.D221G Missense 8/12 - 1
2-202342457-T-A c.664T>A p.F222I Missense 8/12 - 1
2-202342471-C-T c.678C>T p.S226= Synonymous 8/12 - 1
2-202342476-C-T c.683C>T p.S228L Missense 8/12 - 1
2-202342478-G-T c.685G>T p.V229L Missense 8/12 - 1
2-202342484-C-T c.691C>T p.P231S Missense 8/12 - 2
2-202342485-C-T c.692C>T p.P231L Missense 8/12 - 1
2-202342486-G-A c.693G>A p.P231= Synonymous 8/12 - 3
2-202342486-G-C c.693G>C p.P231= Synonymous 8/12 - 1
2-202342486-G-T c.693G>T p.P231= Synonymous 8/12 - 1
2-202342509-G-A c.716G>A p.R239K Missense 8/12 - 1
2-202342737-A-G c.721-73A>G - IntronicSNV - 8/11 2
2-202342802-T-C c.721-8T>C - IntronicSNV - 8/11 7
2-202342820-G-T c.731G>T p.G244V Missense 9/12 - 1
2-202342828-G-C c.739G>C p.V247L Missense 9/12 - 1
2-202342828-G-T c.739G>T p.V247L Missense 9/12 - 1
2-202342830-G-A c.741G>A p.V247= Synonymous 9/12 - 1
2-202342830-G-C c.741G>C p.V247= Synonymous 9/12 - 1
2-202342830-G-T c.741G>T p.V247= Synonymous 9/12 - 1
2-202342852-G-T c.763G>T p.G255W Missense 9/12 - 1
2-202342854-G-A c.765G>A p.G255= Synonymous 9/12 - 1
2-202342854-G-C c.765G>C p.G255= Synonymous 9/12 - 1
2-202342854-G-T c.765G>T p.G255= Synonymous 9/12 - 1
2-202342857-T-C c.768T>C p.I256= Synonymous 9/12 - 1
2-202342861-G-A c.772G>A p.A258T Missense 9/12 - 1
2-202342874-C-T c.785C>T p.A262V Missense 9/12 - 1
2-202342879-GGG-AGC c.790_792delinsAGC p.G264S Missense 9/12 - 1
2-202342880-G-T c.791G>T p.G264V Missense 9/12 - 1
2-202342884-G-C c.795G>C p.Q265H Missense 9/12 - 1
2-202342884-G-T c.795G>T p.Q265H Missense 9/12 - 1
2-202342894-C-T c.805C>T p.Q269* Nonsense 9/12 - 1
2-202342907-G-C c.818G>C p.R273T Missense 9/12 - 2
2-202342910-C-T c.821C>T p.T274I Missense 9/12 - 1
2-202342916-T-C c.825+2T>C - IntronicSNV - 9/11 1
2-202343083-C-A c.829C>A p.L277M Missense 10/12 - 1
2-202343090-A-G c.836A>G p.Q279R Missense 10/12 - 2
2-202343091-G-C c.837G>C p.Q279H Missense 10/12 - 1
2-202343091-G-T c.837G>T p.Q279H Missense 10/12 - 1
2-202343095-C-T c.841C>T p.L281= Synonymous 10/12 - 1
2-202343105-C-A c.851C>A p.P284H Missense 10/12 - 1
2-202343107-C-T c.853C>T p.P285S Missense 10/12 - 4
2-202343108-C-T c.854C>T p.P285L Missense 10/12 - 2
2-202343119-T-C c.865T>C p.L289= Synonymous 10/12 - 1
2-202343121-G-A c.867G>A p.L289= Synonymous 10/12 - 1
2-202343129-G-A c.875G>A p.S292N Missense 10/12 - 1
2-202343136-C-T c.882C>T p.F294= Synonymous 10/12 - 4
2-202343137-C-T c.883C>T p.P295S Missense 10/12 - 1
2-202343150-C-T c.896C>T p.S299F Missense 10/12 - 2
2-202343156-T-A c.902T>A p.M301K Missense 10/12 - 1
2-202343161-A-T c.907A>T p.N303Y Missense 10/12 - 1
2-202343165-C-T c.911C>T p.S304F Missense 10/12 - 2
2-202343169-G-A c.915G>A p.Q305= Synonymous 10/12 - 2
2-202343171-C-G c.917C>G p.S306* Nonsense 10/12 - 1
2-202343174-G-A c.920G>A p.G307D Missense 10/12 - 1
2-202343179-G-C c.925G>C p.D309H Missense 10/12 - 1
2-202343182-T-G c.928T>G p.S310A Missense 10/12 - 2
2-202343187-G-A c.933G>A p.G311= Synonymous 10/12 - 6
2-202343187-G-C c.933G>C p.G311= Synonymous 10/12 - 2
2-202343187-G-T c.933G>T p.G311= Synonymous 10/12 - 2
2-202343206-G-T c.952G>T p.V318F Missense 10/12 - 1
2-202343210-C-A c.956C>A p.S319Y Missense 10/12 - 1
2-202343214-T-C c.960T>C p.S320= Synonymous 10/12 - 1
2-202343226-A-C c.972A>C p.T324= Synonymous 10/12 - 2
2-202343226-A-G c.972A>G p.T324= Synonymous 10/12 - 2
2-202343226-A-T c.972A>T p.T324= Synonymous 10/12 - 2
2-202343228-T-C c.974T>C p.V325A Missense 10/12 - 1
2-202343234-AG-A c.980del p.S327Mfs*46 Frameshift 10/12 - 1
2-202343240-G-A c.986G>A p.R329Q Missense 10/12 - 5
2-202343243-T-TATACACACACCTGGACACACGCACAC c.990_991insTACACACACCTGGACACACGCACACA p.H331Yfs*51 Frameshift 10/12 - 1
2-202343251-C-T c.997C>T p.P333S Missense 10/12 - 1
2-202343256-C-A c.1002C>A p.S334= Synonymous 10/12 - 1
2-202343258-C-A c.1004C>A p.S335* Nonsense 10/12 - 1
2-202343258-C-G c.1004C>G p.S335* Nonsense 10/12 - 1
2-202343278-T-C c.1024T>C p.F342L Missense 10/12 - 1
2-202343290-G-C c.1036G>C p.V346L Missense 10/12 - 1
2-202343290-G-T c.1036G>T p.V346L Missense 10/12 - 1
2-202343295-G-A c.1041G>A p.Q347= Synonymous 10/12 - 1
2-202343314-C-T c.1060C>T p.P354S Missense 10/12 - 5
2-202343315-C-T c.1061C>T p.P354L Missense 10/12 - 1
2-202343317-G-T c.1063G>T p.E355* Nonsense 10/12 - 2
2-202343319-G-C c.1065G>C p.E355D Missense 10/12 - 1
2-202343319-G-T c.1065G>T p.E355D Missense 10/12 - 2
2-202343320-A-G c.1066A>G p.K356E Missense 10/12 - 1
2-202343322-A-C c.1068A>C p.K356N Missense 10/12 - 1
2-202343322-A-T c.1068A>T p.K356N Missense 10/12 - 2
2-202344213-C-T c.1072C>T p.P358S Missense 11/12 - 1
2-202344217-C-T c.1076C>T p.S359L Missense 11/12 - 1
2-202344222-A-G c.1081A>G p.S361G Missense 11/12 - 1
2-202344248-C-A c.1107C>A p.F369L Missense 11/12 - 4
2-202344248-C-T c.1107C>T p.F369= Synonymous 11/12 - 1
2-202344251-A-G c.1110A>G p.K370= Synonymous 11/12 - 1
2-202344764-G-A c.1123G>A p.E375K Missense 12/12 - 1
2-202344764-G-C c.1123G>C p.E375Q Missense 12/12 - 1
2-202344772-G-A c.1131G>A p.Q377= Synonymous 12/12 - 1
2-202344777-C-A c.1136C>A p.S379* Nonsense 12/12 - 1
2-202344777-C-G c.1136C>G p.S379* Nonsense 12/12 - 1
2-202344789-T-G c.1148T>G p.L383R Missense 12/12 - 1
2-202344798-C-T c.1157C>T p.P386L Missense 12/12 - 1
2-202344801-C-T c.1160C>T p.A387V Missense 12/12 - 1
2-202344802-T-A c.1161T>A p.A387= Synonymous 12/12 - 1
2-202344802-T-C c.1161T>C p.A387= Synonymous 12/12 - 1
2-202344802-T-G c.1161T>G p.A387= Synonymous 12/12 - 1
2-202344807-A-G c.1166A>G p.N389S Missense 12/12 - 2
2-202344820-A-G c.1179A>G p.I393M Missense 12/12 - 1
2-202344821-T-C c.1180T>C p.S394P Missense 12/12 - 1
2-202344828-C-G c.1187C>G p.P396R Missense 12/12 - 3
2-202344830-C-T c.1189C>T p.P397S Missense 12/12 - 1
2-202344831-C-T c.1190C>T p.P397L Missense 12/12 - 1
2-202344836-T-C c.1195T>C p.L399= Synonymous 12/12 - 1
2-202344839-C-T c.1198C>T p.P400S Missense 12/12 - 1
2-202344844-G-A c.1203G>A p.W401* Nonsense 12/12 - 1
2-202344844-G-C c.1203G>C p.W401C Missense 12/12 - 1
2-202344845-A-G c.1204A>G p.T402A Missense 12/12 - 2
2-202344857-T-C c.1216T>C p.C406R Missense 12/12 - 1
2-202344860-G-C c.1219G>C p.D407H Missense 12/12 - 1
2-202344860-G-T c.1219G>T p.D407Y Missense 12/12 - 4
2-202344861-A-G c.1220A>G p.D407G Missense 12/12 - 3
2-202344863-T-A c.1222T>A p.F408I Missense 12/12 - 1
2-202344866-C-G c.1225C>G p.P409A Missense 12/12 - 6
2-202344869-G-A c.1228G>A p.D410N Missense 12/12 - 1
2-202344876-A-C c.1235A>C p.K412T Missense 12/12 - 1
2-202344879-A-T c.1238A>T p.D413V Missense 12/12 - 1
2-202344880-C-T c.1239C>T p.D413= Synonymous 12/12 - 2
2-202344884-T-C c.1243T>C p.Y415H Missense 12/12 - 1
2-202344886-C-T c.1245C>T p.Y415= Synonymous 12/12 - 3
2-202344888-G-T c.1247G>T p.W416L Missense 12/12 - 8
2-202344895-C-T c.1254C>T p.F418= Synonymous 12/12 - 2
2-202345075-C-T c.*177C>T - 3-UTRSNV 12/12 - 1
2-202345476-C-A c.*578C>A - 3-UTRSNV 12/12 - 4