SERTAD1

SERTAD1 SERTA domain containing 1

Annotation transcript: NM_013376.4

190 unique variant annotations were identified in 183 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
19-40928752-CTGG-C c.700_702del p.P234del InFrameDeletion 2/2 - 1
19-40928754-G-T c.700C>A p.P234T Missense 2/2 - 1
19-40928755-C-T c.699G>A p.G233= Synonymous 2/2 - 1
19-40928757-C-A c.697G>T p.G233W Missense 2/2 - 1
19-40928758-C-A c.696G>T p.P232= Synonymous 2/2 - 1
19-40928758-C-T c.696G>A p.P232= Synonymous 2/2 - 1
19-40928761-C-A c.693G>T p.P231= Synonymous 2/2 - 2
19-40928762-G-A c.692C>T p.P231L Missense 2/2 - 2
19-40928765-C-T c.689G>A p.R230Q Missense 2/2 - 2
19-40928766-G-A c.688C>T p.R230* Nonsense 2/2 - 1
19-40928769-C-T c.685G>A p.E229K Missense 2/2 - 2
19-40928783-C-T c.671G>A p.G224D Missense 2/2 - 1
19-40928790-G-A c.664C>T p.L222= Synonymous 2/2 - 1
19-40928801-A-T c.653T>A p.L218H Missense 2/2 - 1
19-40928806-G-A c.648C>T p.D216= Synonymous 2/2 - 1
19-40928808-C-T c.646G>A p.D216N Missense 2/2 - 1
19-40928814-C-T c.640G>A p.E214K Missense 2/2 - 8
19-40928815-G-A c.639C>T p.A213= Synonymous 2/2 - 1
19-40928816-G-A c.638C>T p.A213V Missense 2/2 - 2
19-40928818-C-T c.636G>A p.E212= Synonymous 2/2 - 1
19-40928820-C-G c.634G>C p.E212Q Missense 2/2 - 1
19-40928820-C-T c.634G>A p.E212K Missense 2/2 - 1
19-40928824-C-A c.630G>T p.L210= Synonymous 2/2 - 1
19-40928824-C-G c.630G>C p.L210= Synonymous 2/2 - 1
19-40928824-C-T c.630G>A p.L210= Synonymous 2/2 - 1
19-40928826-G-A c.628C>T p.L210= Synonymous 2/2 - 1
19-40928825-A-G c.629T>C p.L210P Missense 2/2 - 4
19-40928826-G-C c.628C>G p.L210V Missense 2/2 - 2
19-40928828-T-C c.626A>G p.E209G Missense 2/2 - 1
19-40928838-C-T c.616G>A p.E206K Missense 2/2 - 3
19-40928848-C-A c.606G>T p.P202= Synonymous 2/2 - 1
19-40928849-G-A c.605C>T p.P202L Missense 2/2 - 2
19-40928850-G-A c.604C>T p.P202S Missense 2/2 - 1
19-40928864-C-T c.590G>A p.G197D Missense 2/2 - 1
19-40928865-C-A c.589G>T p.G197C Missense 2/2 - 1
19-40928868-G-C c.586C>G p.P196A Missense 2/2 - 1
19-40928872-G-A c.582C>T p.L194= Synonymous 2/2 - 1
19-40928872-G-C c.582C>G p.L194= Synonymous 2/2 - 3
19-40928872-G-T c.582C>A p.L194= Synonymous 2/2 - 1
19-40928876-C-T c.578G>A p.G193D Missense 2/2 - 2
19-40928877-C-A c.577G>T p.G193C Missense 2/2 - 2
19-40928882-G-A c.572C>T p.S191F Missense 2/2 - 5
19-40928886-C-T c.568G>A p.A190T Missense 2/2 - 1
19-40928898-G-A c.556C>T p.L186F Missense 2/2 - 1
19-40928904-T-G c.550A>C p.N184H Missense 2/2 - 3
19-40928913-T-C c.541A>G p.M181V Missense 2/2 - 1
19-40928935-C-A c.519G>T p.L173= Synonymous 2/2 - 1
19-40928935-C-G c.519G>C p.L173= Synonymous 2/2 - 1
19-40928935-C-T c.519G>A p.L173= Synonymous 2/2 - 1
19-40928937-G-A c.517C>T p.L173= Synonymous 2/2 - 1
19-40928937-G-T c.517C>A p.L173M Missense 2/2 - 1
19-40928938-G-A c.516C>T p.G172= Synonymous 2/2 - 1
19-40928942-T-C c.512A>G p.E171G Missense 2/2 - 1
19-40928943-C-G c.511G>C p.E171Q Missense 2/2 - 1
19-40928943-C-T c.511G>A p.E171K Missense 2/2 - 1
19-40928944-A-C c.510T>G p.L170= Synonymous 2/2 - 1
19-40928944-A-G c.510T>C p.L170= Synonymous 2/2 - 13
19-40928944-A-T c.510T>A p.L170= Synonymous 2/2 - 1
19-40928952-C-A c.502G>T p.D168Y Missense 2/2 - 1
19-40928954-T-C c.500A>G p.D167G Missense 2/2 - 1
19-40928959-TAG-AAA c.493_495delinsTTT p.L165F Missense 2/2 - 1
19-40928970-T-C c.484A>G p.T162A Missense 2/2 - 1
19-40928971-G-C c.483C>G p.A161= Synonymous 2/2 - 1
19-40928973-C-A c.481G>T p.A161S Missense 2/2 - 1
19-40928980-C-T c.474G>A p.L158= Synonymous 2/2 - 1
19-40928985-G-A c.469C>T p.L157= Synonymous 2/2 - 1
19-40928986-G-A c.468C>T p.D156= Synonymous 2/2 - 1
19-40928993-G-A c.461C>T p.A154V Missense 2/2 - 1
19-40929002-C-T c.452G>A p.S151N Missense 2/2 - 1
19-40929008-G-A c.446C>T p.A149V Missense 2/2 - 2
19-40929009-C-T c.445G>A p.A149T Missense 2/2 - 2
19-40929011-G-C c.443C>G p.A148G Missense 2/2 - 1
19-40929016-C-A c.438G>T p.G146= Synonymous 2/2 - 3
19-40929016-C-G c.438G>C p.G146= Synonymous 2/2 - 1
19-40929016-C-T c.438G>A p.G146= Synonymous 2/2 - 1
19-40929018-C-G c.436G>C p.G146R Missense 2/2 - 2
19-40929018-C-T c.436G>A p.G146R Missense 2/2 - 2
19-40929030-C-A c.424G>T p.G142C Missense 2/2 - 1
19-40929038-C-T c.416G>A p.G139E Missense 2/2 - 1
19-40929039-C-G c.415G>C p.G139R Missense 2/2 - 1
19-40929039-C-T c.415G>A p.G139R Missense 2/2 - 1
19-40929052-G-A c.402C>T p.P134= Synonymous 2/2 - 1
19-40929053-G-A c.401C>T p.P134L Missense 2/2 - 2
19-40929059-G-A c.395C>T p.P132L Missense 2/2 - 1
19-40929060-G-T c.394C>A p.P132T Missense 2/2 - 1
19-40929074-C-A c.380G>T p.G127V Missense 2/2 - 1
19-40929078-C-T c.376G>A p.E126K Missense 2/2 - 1
19-40929092-T-G c.362A>C p.D121A Missense 2/2 - 1
19-40929094-C-T c.360G>A p.E120= Synonymous 2/2 - 1
19-40929095-T-G c.359A>C p.E120A Missense 2/2 - 1
19-40929100-G-A c.354C>T p.L118= Synonymous 2/2 - 1
19-40929100-G-C c.354C>G p.L118= Synonymous 2/2 - 1
19-40929100-G-T c.354C>A p.L118= Synonymous 2/2 - 1
19-40929109-C-A c.345G>T p.M115I Missense 2/2 - 1
19-40929109-C-G c.345G>C p.M115I Missense 2/2 - 1
19-40929109-C-T c.345G>A p.M115I Missense 2/2 - 1
19-40929113-G-A c.341C>T p.S114F Missense 2/2 - 4
19-40929114-A-C c.340T>G p.S114A Missense 2/2 - 1
19-40929115-G-T c.339C>A p.A113= Synonymous 2/2 - 1
19-40929120-A-C c.334T>G p.S112A Missense 2/2 - 1
19-40929132-C-G c.322G>C p.D108H Missense 2/2 - 1
19-40929134-G-T c.320C>A p.S107* Nonsense 2/2 - 1
19-40929136-G-A c.318C>T p.S106= Synonymous 2/2 - 1
19-40929139-T-A c.315A>T p.A105= Synonymous 2/2 - 1
19-40929139-T-C c.315A>G p.A105= Synonymous 2/2 - 1
19-40929139-T-G c.315A>C p.A105= Synonymous 2/2 - 1
19-40929151-G-A c.303C>T p.D101= Synonymous 2/2 - 1
19-40929159-C-T c.295G>A p.V99M Missense 2/2 - 2
19-40929165-G-A c.289C>T p.P97S Missense 2/2 - 1
19-40929166-G-A c.288C>T p.A96= Synonymous 2/2 - 1
19-40929185-A-G c.269T>C p.V90A Missense 2/2 - 1
19-40929186-C-T c.268G>A p.V90M Missense 2/2 - 1
19-40929188-G-A c.266C>T p.P89L Missense 2/2 - 1
19-40929200-G-A c.254C>T p.A85V Missense 2/2 - 6
19-40929204-C-T c.250G>A p.A84T Missense 2/2 - 6
19-40929205-G-A c.249C>T p.P83= Synonymous 2/2 - 1
19-40929205-G-C c.249C>G p.P83= Synonymous 2/2 - 1
19-40929205-G-T c.249C>A p.P83= Synonymous 2/2 - 1
19-40929209-G-T c.245C>A p.A82E Missense 2/2 - 1
19-40929215-G-T c.239C>A p.S80Y Missense 2/2 - 1
19-40929219-C-T c.235G>A p.A79T Missense 2/2 - 1
19-40929228-G-A c.226C>T p.R76C Missense 2/2 - 2
19-40929230-C-T c.224G>A p.R75Q Missense 2/2 - 1
19-40929236-G-A c.218C>T p.T73I Missense 2/2 - 1
19-40929238-G-A c.216C>T p.N72= Synonymous 2/2 - 1
19-40929246-C-G c.208G>C p.V70L Missense 2/2 - 1
19-40929250-C-A c.204G>T p.V68= Synonymous 2/2 - 1
19-40929252-C-T c.202G>A p.V68M Missense 2/2 - 1
19-40929258-G-A c.196C>T p.H66Y Missense 2/2 - 1
19-40929259-CCG-ACA c.193_195delinsTGT p.R65C Missense 2/2 - 1
19-40929264-G-T c.190C>A p.L64M Missense 2/2 - 2
19-40929268-C-A c.186G>T p.P62= Synonymous 2/2 - 1
19-40929268-C-G c.186G>C p.P62= Synonymous 2/2 - 1
19-40929268-C-T c.186G>A p.P62= Synonymous 2/2 - 1
19-40929287-C-T c.167G>A p.S56N Missense 2/2 - 1
19-40929308-G-C c.146C>G p.S49* Nonsense 2/2 - 2
19-40929308-G-T c.146C>A p.S49* Nonsense 2/2 - 2
19-40929310-G-A c.144C>T p.L48= Synonymous 2/2 - 2
19-40929310-G-C c.144C>G p.L48= Synonymous 2/2 - 2
19-40929310-G-T c.144C>A p.L48= Synonymous 2/2 - 2
19-40929311-A-G c.143T>C p.L48P Missense 2/2 - 3
19-40929323-G-A c.131C>T p.S44F Missense 2/2 - 2
19-40929331-G-A c.123C>T p.A41= Synonymous 2/2 - 1
19-40929331-G-C c.123C>G p.A41= Synonymous 2/2 - 1
19-40929331-G-T c.123C>A p.A41= Synonymous 2/2 - 1
19-40929334-C-T c.120G>A p.V40= Synonymous 2/2 - 1
19-40929336-C-T c.118G>A p.V40M Missense 2/2 - 2
19-40929339-C-T c.115G>A p.A39T Missense 2/2 - 2
19-40929340-C-A c.114G>T p.P38= Synonymous 2/2 - 1
19-40929340-C-G c.114G>C p.P38= Synonymous 2/2 - 1
19-40929340-C-T c.114G>A p.P38= Synonymous 2/2 - 3
19-40929341-G-T c.113C>A p.P38Q Missense 2/2 - 1
19-40929342-G-A c.112C>T p.P38S Missense 2/2 - 7
19-40929342-G-T c.112C>A p.P38T Missense 2/2 - 1
19-40929344-G-C c.110C>G p.P37R Missense 2/2 - 1
19-40929340-CG-C c.113del p.P38Rfs*34 Frameshift 2/2 - 1
19-40929350-T-G c.104A>C p.Q35P Missense 2/2 - 1
19-40929358-C-A c.96G>T p.A32= Synonymous 2/2 - 2
19-40929358-C-G c.96G>C p.A32= Synonymous 2/2 - 2
19-40929358-C-T c.96G>A p.A32= Synonymous 2/2 - 2
19-40929361-T-A c.93A>T p.T31= Synonymous 2/2 - 3
19-40929361-T-C c.93A>G p.T31= Synonymous 2/2 - 3
19-40929361-T-G c.93A>C p.T31= Synonymous 2/2 - 3
19-40929363-T-C c.91A>G p.T31A Missense 2/2 - 40
19-40929365-T-G c.89A>C p.H30P Missense 2/2 - 1
19-40929371-G-A c.83C>T p.P28L Missense 2/2 - 4
19-40929372-G-A c.82C>T p.P28S Missense 2/2 - 4
19-40929372-G-C c.82C>G p.P28A Missense 2/2 - 1
19-40929380-C-A c.74G>T p.W25L Missense 2/2 - 1
19-40929390-C-T c.64G>A p.D22N Missense 2/2 - 2
19-40929394-TGC-ACA c.58_60delinsTGT p.A20C Missense 2/2 - 2
19-40929394-TG-GT c.59_60delinsAC p.A20D Missense 2/2 - 1
19-40929395-G-A c.59C>T p.A20V Missense 2/2 - 1
19-40929401-G-A c.53C>T p.P18L Missense 2/2 - 1
19-40929401-G-T c.53C>A p.P18H Missense 2/2 - 1
19-40929408-T-C c.46A>G p.K16E Missense 2/2 - 1
19-40929409-CTC-GAT c.43_45delinsATC p.E15I Missense 2/2 - 1
19-40929413-T-C c.41A>G p.E14G Missense 2/2 - 1
19-40929414-C-A c.40G>T p.E14* Nonsense 2/2 - 1
19-40929414-C-T c.40G>A p.E14K Missense 2/2 - 1
19-40929408-TCTCCTC-T c.40_45del p.E14_E15del InFrameDeletion 2/2 - 1
19-40929420-C-T c.34G>A p.E12K Missense 2/2 - 1
19-40929408-TCTC-T c.43_45del p.E15del InFrameDeletion 2/2 - 6
19-40929426-G-A c.28C>T p.R10W Missense 2/2 - 1
19-40929446-C-T c.8G>A p.S3N Missense 2/2 - 1
19-40929553-G-C c.1-100C>G - IntronicSNV - 1/1 5
19-40931717-T-C c.-1+57A>G - intron_variant - 1/1 1
19-40931865-T-A c.-92A>T - 5_prime_UTR_variant 1/2 - 3
19-40931865-T-C c.-92A>G - 5_prime_UTR_variant 1/2 - 3
19-40931865-T-G c.-92A>C - 5_prime_UTR_variant 1/2 - 3