USP27X

USP27X ubiquitin specific peptidase 27 X-linked

Annotation transcript: NM_001145073.3

192 unique variant annotations were identified in 112 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
X-49644914-TG-CA c.4_5inv p.C2H Missense 1/1 - 1
X-49644926-G-C c.16G>C p.V6L Missense 1/1 - 1
X-49644936-A-T c.26A>T p.K9I Missense 1/1 - 1
X-49644940-C-T c.30C>T p.D10= Synonymous 1/1 - 1
X-49644946-G-A c.36G>A p.E12= Synonymous 1/1 - 1
X-49644959-G-T c.49G>T p.E17* Nonsense 1/1 - 1
X-49644975-C-A c.65C>A p.A22D Missense 1/1 - 1
X-49644985-A-G c.75A>G p.L25= Synonymous 1/1 - 2
X-49644996-CC-TG c.86_87delinsTG p.T29M Missense 1/1 - 1
X-49644996-C-T c.86C>T p.T29I Missense 1/1 - 1
X-49645007-G-T c.97G>T p.V33F Missense 1/1 - 1
X-49645045-G-C c.135G>C p.E45D Missense 1/1 - 1
X-49645045-G-T c.135G>T p.E45D Missense 1/1 - 1
X-49645051-C-T c.141C>T p.F47= Synonymous 1/1 - 1
X-49645096-AC-A c.186del p.H62Qfs*16 Frameshift 1/1 - 1
X-49645100-C-A c.190C>A p.P64T Missense 1/1 - 1
X-49645101-C-A c.191C>A p.P64Q Missense 1/1 - 1
X-49645107-G-T c.197G>T p.R66I Missense 1/1 - 1
X-49645128-T-C c.218T>C p.F73S Missense 1/1 - 1
X-49645131-C-T c.221C>T p.T74M Missense 1/1 - 4
X-49645135-C-A c.225C>A p.I75= Synonymous 1/1 - 1
X-49645135-C-T c.225C>T p.I75= Synonymous 1/1 - 1
X-49645144-A-C c.234A>C p.R78S Missense 1/1 - 1
X-49645144-A-T c.234A>T p.R78S Missense 1/1 - 1
X-49645146-G-C c.236G>C p.G79A Missense 1/1 - 1
X-49645153-C-T c.243C>T p.I81= Synonymous 1/1 - 1
X-49645159-T-C c.249T>C p.L83= Synonymous 1/1 - 1
X-49645165-C-T c.255C>T p.N85= Synonymous 1/1 - 1
X-49645166-A-G c.256A>G p.T86A Missense 1/1 - 1
X-49645169-T-A c.259T>A p.C87S Missense 1/1 - 1
X-49645169-TG-GC c.259_260delinsGC p.C87A Missense 1/1 - 2
X-49645170-G-C c.260G>C p.C87S Missense 1/1 - 1
X-49645174-T-C c.264T>C p.F88= Synonymous 1/1 - 1
X-49645181-T-A c.271T>A p.C91S Missense 1/1 - 1
X-49645182-G-C c.272G>C p.C91S Missense 1/1 - 1
X-49645200-C-A c.290C>A p.T97N Missense 1/1 - 1
X-49645200-C-T c.290C>T p.T97I Missense 1/1 - 1
X-49645217-AGA-TGG c.307_309delinsTGG p.R103W Missense 1/1 - 1
X-49645223-T-C c.313T>C p.F105L Missense 1/1 - 1
X-49645225-C-A c.315C>A p.F105L Missense 1/1 - 1
X-49645225-C-G c.315C>G p.F105L Missense 1/1 - 1
X-49645225-C-T c.315C>T p.F105= Synonymous 1/1 - 1
X-49645256-C-T c.346C>T p.P116S Missense 1/1 - 1
X-49645257-C-T c.347C>T p.P116L Missense 1/1 - 1
X-49645260-G-C c.350G>C p.S117T Missense 1/1 - 1
X-49645263-C-T c.353C>T p.P118L Missense 1/1 - 1
X-49645266-A-T c.356A>T p.E119V Missense 1/1 - 1
X-49645290-C-T c.380C>T p.S127L Missense 1/1 - 2
X-49645295-C-T c.385C>T p.L129= Synonymous 1/1 - 4
X-49645297-G-A c.387G>A p.L129= Synonymous 1/1 - 5
X-49645297-G-C c.387G>C p.L129= Synonymous 1/1 - 5
X-49645297-G-T c.387G>T p.L129= Synonymous 1/1 - 4
X-49645301-C-T c.391C>T p.R131W Missense 1/1 - 1
X-49645303-G-A c.393G>A p.R131= Synonymous 1/1 - 1
X-49645307-T-C c.397T>C p.L133= Synonymous 1/1 - 1
X-49645324-G-A c.414G>A p.P138= Synonymous 1/1 - 1
X-49645328-C-G c.418C>G p.P140A Missense 1/1 - 1
X-49645345-G-A c.435G>A p.K145= Synonymous 1/1 - 1
X-49645348-A-C c.438A>C p.L146F Missense 1/1 - 3
X-49645348-A-T c.438A>T p.L146F Missense 1/1 - 5
X-49645365-T-C c.455T>C p.I152T Missense 1/1 - 1
X-49645374-G-A c.464G>A p.R155H Missense 1/1 - 6
X-49645384-A-G c.474A>G p.A158= Synonymous 1/1 - 1
X-49645393-G-A c.483G>A p.R161= Synonymous 1/1 - 1
X-49645396-A-G c.486A>G p.Q162= Synonymous 1/1 - 1
X-49645408-C-T c.498C>T p.H166= Synonymous 1/1 - 1
X-49645409-G-A c.499G>A p.E167K Missense 1/1 - 1
X-49645414-C-T c.504C>T p.F168= Synonymous 1/1 - 2
X-49645420-T-C c.510T>C p.I170= Synonymous 1/1 - 1
X-49645430-G-A c.520G>A p.D174N Missense 1/1 - 2
X-49645434-T-C c.524T>C p.V175A Missense 1/1 - 1
X-49645436-C-G c.526C>G p.L176V Missense 1/1 - 1
X-49645443-G-A c.533G>A p.R178K Missense 1/1 - 1
X-49645442-A-C c.532A>C p.R178= Synonymous 1/1 - 1
X-49645444-G-A c.534G>A p.R178= Synonymous 1/1 - 1
X-49645453-A-C c.543A>C p.K181N Missense 1/1 - 1
X-49645453-A-T c.543A>T p.K181N Missense 1/1 - 1
X-49645466-G-A c.556G>A p.G186R Missense 1/1 - 2
X-49645466-G-C c.556G>C p.G186R Missense 1/1 - 2
X-49645475-G-T c.565G>T p.A189S Missense 1/1 - 1
X-49645482-A-G c.572A>G p.N191S Missense 1/1 - 2
X-49645484-C-T c.574C>T p.P192S Missense 1/1 - 1
X-49645487-A-C c.577A>C p.N193H Missense 1/1 - 1
X-49645490-C-T c.580C>T p.H194Y Missense 1/1 - 1
X-49645493-T-C c.583T>C p.C195R Missense 1/1 - 1
X-49645504-C-A c.594C>A p.I198= Synonymous 1/1 - 2
X-49645504-C-T c.594C>T p.I198= Synonymous 1/1 - 2
X-49645537-T-C c.627T>C p.S209= Synonymous 1/1 - 1
X-49645544-A-C c.634A>C p.T212P Missense 1/1 - 1
X-49645545-C-T c.635C>T p.T212I Missense 1/1 - 3
X-49645548-G-A c.638G>A p.C213Y Missense 1/1 - 1
X-49645552-A-C c.642A>C p.Q214H Missense 1/1 - 1
X-49645552-A-T c.642A>T p.Q214H Missense 1/1 - 1
X-49645560-A-G c.650A>G p.H217R Missense 1/1 - 1
X-49645564-C-A c.654C>A p.G218= Synonymous 1/1 - 1
X-49645564-C-G c.654C>G p.G218= Synonymous 1/1 - 1
X-49645564-C-T c.654C>T p.G218= Synonymous 1/1 - 1
X-49645581-A-G c.671A>G p.D224G Missense 1/1 - 1
X-49645582-C-A c.672C>A p.D224E Missense 1/1 - 1
X-49645588-C-A c.678C>A p.C226* Nonsense 1/1 - 1
X-49645615-C-A c.705C>A p.G235= Synonymous 1/1 - 1
X-49645615-C-G c.705C>G p.G235= Synonymous 1/1 - 2
X-49645615-C-T c.705C>T p.G235= Synonymous 1/1 - 2
X-49645620-G-C c.710G>C p.C237S Missense 1/1 - 1
X-49645624-C-A c.714C>A p.T238= Synonymous 1/1 - 1
X-49645629-T-C c.719T>C p.F240S Missense 1/1 - 2
X-49645630-C-A c.720C>A p.F240L Missense 1/1 - 1
X-49645630-C-T c.720C>T p.F240= Synonymous 1/1 - 1
X-49645641-G-A c.731G>A p.S244N Missense 1/1 - 3
X-49645643-C-A c.733C>A p.P245T Missense 1/1 - 1
X-49645643-C-T c.733C>T p.P245S Missense 1/1 - 1
X-49645650-G-T c.740G>T p.R247M Missense 1/1 - 1
X-49645654-G-C c.744G>C p.E248D Missense 1/1 - 1
X-49645654-G-T c.744G>T p.E248D Missense 1/1 - 1
X-49645658-A-T c.748A>T p.S250C Missense 1/1 - 1
X-49645660-T-C c.750T>C p.S250= Synonymous 1/1 - 1
X-49645661-G-T c.751G>T p.V251L Missense 1/1 - 1
X-49645664-A-G c.754A>G p.N252D Missense 1/1 - 1
X-49645666-C-T c.756C>T p.N252= Synonymous 1/1 - 3
X-49645674-G-T c.764G>T p.S255I Missense 1/1 - 1
X-49645679-A-G c.769A>G p.I257V Missense 1/1 - 1
X-49645685-G-T c.775G>T p.G259* Nonsense 1/1 - 1
X-49645695-C-A c.785C>A p.T262N Missense 1/1 - 1
X-49645695-C-T c.785C>T p.T262I Missense 1/1 - 1
X-49645708-C-A c.798C>A p.C266* Nonsense 1/1 - 1
X-49645714-G-A c.804G>A p.R268= Synonymous 1/1 - 1
X-49645722-C-T c.812C>T p.T271M Missense 1/1 - 2
X-49645723-G-A c.813G>A p.T271= Synonymous 1/1 - 1
X-49645736-T-G c.826T>G p.L276V Missense 1/1 - 1
X-49645744-C-T c.834C>T p.S278= Synonymous 1/1 - 1
X-49645746-G-A c.836G>A p.S279N Missense 1/1 - 1
X-49645783-G-A c.873G>A p.Q291= Synonymous 1/1 - 1
X-49645800-CT-C c.890del p.L297Pfs*3 Frameshift 1/1 - 1
X-49645801-C-A c.891C>A p.L297= Synonymous 1/1 - 1
X-49645801-C-G c.891C>G p.L297= Synonymous 1/1 - 1
X-49645801-C-T c.891C>T p.L297= Synonymous 1/1 - 1
X-49645808-A-G c.898A>G p.N300D Missense 1/1 - 4
X-49645810-T-G c.900T>G p.N300K Missense 1/1 - 1
X-49645823-G-A c.913G>A p.V305I Missense 1/1 - 1
X-49645826-G-A c.916G>A p.A306T Missense 1/1 - 2
X-49645844-C-T c.934C>T p.R312W Missense 1/1 - 1
X-49645850-G-T c.940G>T p.E314* Nonsense 1/1 - 1
X-49645855-T-G c.945T>G p.H315Q Missense 1/1 - 1
X-49645876-G-A c.966G>A p.K322= Synonymous 1/1 - 1
X-49645881-C-T c.971C>T p.T324I Missense 1/1 - 1
X-49645888-C-T c.978C>T p.Y326= Synonymous 1/1 - 1
X-49645890-T-A c.980T>A p.I327N Missense 1/1 - 1
X-49645896-T-C c.986T>C p.F329S Missense 1/1 - 1
X-49645917-C-T c.1007C>T p.T336M Missense 1/1 - 1
X-49645918-G-A c.1008G>A p.T336= Synonymous 1/1 - 2
X-49645918-G-C c.1008G>C p.T336= Synonymous 1/1 - 1
X-49645918-G-T c.1008G>T p.T336= Synonymous 1/1 - 1
X-49645919-C-T c.1009C>T p.P337S Missense 1/1 - 2
X-49645921-G-A c.1011G>A p.P337= Synonymous 1/1 - 2
X-49645921-G-C c.1011G>C p.P337= Synonymous 1/1 - 2
X-49645921-G-T c.1011G>T p.P337= Synonymous 1/1 - 2
X-49645932-CA-TT c.1022_1023delinsTT p.S341F Missense 1/1 - 2
X-49645932-CAAGTA-C c.1026_1030del p.S342Rfs*14 Frameshift 1/1 - 1
X-49645949-A-G c.1039A>G p.M347V Missense 1/1 - 1
X-49645951-G-A c.1041G>A p.M347I Missense 1/1 - 1
X-49645951-G-C c.1041G>C p.M347I Missense 1/1 - 1
X-49645951-G-T c.1041G>T p.M347I Missense 1/1 - 1
X-49645980-G-T c.1070G>T p.S357I Missense 1/1 - 1
X-49645998-A-G c.1088A>G p.K363R Missense 1/1 - 1
X-49645999-G-A c.1089G>A p.K363= Synonymous 1/1 - 1
X-49646008-G-T c.1098G>T p.L366F Missense 1/1 - 1
X-49646012-G-C c.1102G>C p.A368P Missense 1/1 - 2
X-49646013-C-A c.1103C>A p.A368D Missense 1/1 - 1
X-49646024-C-T c.1114C>T p.H372Y Missense 1/1 - 1
X-49646043-G-C c.1133G>C p.S378T Missense 1/1 - 1
X-49646043-G-T c.1133G>T p.S378I Missense 1/1 - 2
X-49646048-CA-GC c.1138_1139delinsGC p.H380A Missense 1/1 - 1
X-49646050-C-A c.1140C>A p.H380Q Missense 1/1 - 1
X-49646051-T-C c.1141T>C p.Y381H Missense 1/1 - 3
X-49646067-G-A c.1157G>A p.R386Q Missense 1/1 - 4
X-49646076-A-G c.1166A>G p.K389R Missense 1/1 - 1
X-49646104-C-A c.1194C>A p.A398= Synonymous 1/1 - 1
X-49646104-C-G c.1194C>G p.A398= Synonymous 1/1 - 1
X-49646104-C-T c.1194C>T p.A398= Synonymous 1/1 - 1
X-49646121-G-T c.1211G>T p.S404I Missense 1/1 - 1
X-49646123-A-AT c.1215dup p.K406* Nonsense 1/1 - 1
X-49646132-G-A c.1222G>A p.V408I Missense 1/1 - 1
X-49646137-G-T c.1227G>T p.L409= Synonymous 1/1 - 1
X-49646140-C-T c.1230C>T p.D410= Synonymous 1/1 - 2
X-49646154-T-C c.1244T>C p.L415S Missense 1/1 - 2
X-49646156-CTG-TTT c.1246_1248delinsTTT p.L416F Missense 1/1 - 1
X-49646167-C-T c.1257C>T p.H419= Synonymous 1/1 - 1
X-49646192-G-T c.1282G>T p.E428* Nonsense 1/1 - 1
X-49646202-A-C c.1292A>C p.K431T Missense 1/1 - 1
X-49646209-G-T c.1299G>T p.M433I Missense 1/1 - 1
X-49646212-C-T c.1302C>T p.N434= Synonymous 1/1 - 1
X-49647019-G-A c.*791G>A - 3_prime_UTR_variant 1/1 - 1