PSMB1

PSMB1 proteasome 20S subunit beta 1

Annotation transcript: NM_002793.4

235 unique variant annotations were identified in 244 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
6-170844311-G-A c.723C>T p.D241= Synonymous 6/6 - 2
6-170844313-C-T c.721G>A p.D241N Missense 6/6 - 2
6-170844315-T-C c.719A>G p.K240R Missense 6/6 - 1
6-170844329-AG-CA c.704_705delinsTG p.T235M Missense 6/6 - 1
6-170844336-T-C c.698A>G p.E233G Missense 6/6 - 1
6-170844346-C-A c.688G>T p.G230C Missense 6/6 - 1
6-170844361-T-C c.673A>G p.I225V Missense 6/6 - 3
6-170844362-G-A c.672C>T p.C224= Synonymous 6/6 - 1
6-170844363-CA-GT c.670_671delinsAC p.C224T Missense 6/6 - 1
6-170844365-G-C c.669C>G p.I223M Missense 6/6 - 1
6-170844368-CCG-ACA c.664_666delinsTGT p.R222C Missense 6/6 - 1
6-170844370-G-A c.664C>T p.R222W Missense 6/6 - 1
6-170844375-G-A c.659C>T p.A220V Missense 6/6 - 1
6-170844377-G-A c.657C>T p.D219= Synonymous 6/6 - 1
6-170844394-C-A c.640G>T p.D214Y Missense 6/6 - 1
6-170844396-C-G c.638G>C p.R213T Missense 6/6 - 2
6-170844396-C-T c.638G>A p.R213K Missense 6/6 - 1
6-170844392-ATC-A c.640_641del p.D214Cfs*56 Frameshift 6/6 - 1
6-170844403-C-G c.631G>C p.A211P Missense 6/6 - 1
6-170844403-C-T c.631G>A p.A211T Missense 6/6 - 1
6-170844404-C-A c.630G>T p.A210= Synonymous 6/6 - 2
6-170844404-C-G c.630G>C p.A210= Synonymous 6/6 - 2
6-170844404-C-T c.630G>A p.A210= Synonymous 6/6 - 3
6-170844405-G-A c.629C>T p.A210V Missense 6/6 - 1
6-170844409-A-G c.625T>C p.S209P Missense 6/6 - 1
6-170844411-A-T c.623T>A p.I208N Missense 6/6 - 3
6-170844417-A-G c.617T>C p.V206A Missense 6/6 - 4
6-170844418-C-T c.616G>A p.V206I Missense 6/6 - 1
6-170844422-T-C c.612A>G p.K204= Synonymous 6/6 - 1
6-170844426-A-C c.608T>G p.V203G Missense 6/6 - 3
6-170844427-C-A c.607G>T p.V203L Missense 6/6 - 1
6-170844429-AG-GA c.604_605delinsTC p.L202S Missense 6/6 - 1
6-170844431-CCG-ACA c.601_603delinsTGT p.R201C Missense 6/6 - 1
6-170844431-C-T c.603G>A p.R201= Synonymous 6/6 - 1
6-170844432-C-A c.602G>T p.R201L Missense 6/6 - 1
6-170844432-C-T c.602G>A p.R201Q Missense 6/6 - 1
6-170844433-G-A c.601C>T p.R201W Missense 6/6 - 5
6-170844434-C-A c.600G>T p.M200I Missense 6/6 - 1
6-170844434-C-G c.600G>C p.M200I Missense 6/6 - 1
6-170844434-C-T c.600G>A p.M200I Missense 6/6 - 1
6-170844453-AGCG-A c.578_580del p.P193del InFrameDeletion 6/6 - 1
6-170844456-G-A c.578C>T p.P193L Missense 6/6 - 2
6-170844466-C-G c.568G>C p.E190Q Missense 6/6 - 2
6-170844467-C-A c.567G>T p.V189= Synonymous 6/6 - 1
6-170844467-CAC-GAT c.565_567delinsATC p.V189I Missense 6/6 - 1
6-170844467-C-G c.567G>C p.V189= Synonymous 6/6 - 1
6-170844467-C-T c.567G>A p.V189= Synonymous 6/6 - 1
6-170844468-A-T c.566T>A p.V189E Missense 6/6 - 1
6-170844469-C-T c.565G>A p.V189M Missense 6/6 - 1
6-170844480-T-C c.554A>G p.N185S Missense 6/6 - 1
6-170844482-C-A c.552G>T p.K184N Missense 6/6 - 1
6-170844482-C-G c.552G>C p.K184N Missense 6/6 - 1
6-170844484-T-G c.550A>C p.K184Q Missense 6/6 - 1
6-170844489-C-T c.545G>A p.G182D Missense 6/6 - 4
6-170844605-C-T c.541-112G>A - IntronicSNV - 5/5 3
6-170845354-A-C c.541-861T>G - IntronicSNV - 5/5 3
6-170845354-A-G c.541-861T>C - IntronicSNV - 5/5 3
6-170846322-C-T c.540G>A p.Q180= Synonymous 5/6 - 1
6-170846323-T-A c.539A>T p.Q180L Missense 5/6 - 3
6-170846323-T-C c.539A>G p.Q180R Missense 5/6 - 1
6-170846328-G-A c.534C>T p.D178= Synonymous 5/6 - 1
6-170846330-C-T c.532G>A p.D178N Missense 5/6 - 2
6-170846332-A-G c.530T>C p.L177P Missense 5/6 - 1
6-170846342-G-C c.520C>G p.Q174E Missense 5/6 - 6
6-170846348-T-A c.514A>T p.M172L Missense 5/6 - 1
6-170846351-C-A c.511G>T p.A171S Missense 5/6 - 1
6-170846357-C-T c.505G>A p.A169T Missense 5/6 - 1
6-170846365-C-G c.497G>C p.G166A Missense 5/6 - 7
6-170846368-G-T c.494C>A p.A165D Missense 5/6 - 2
6-170846369-C-A c.493G>T p.A165S Missense 5/6 - 4
6-170846376-G-A c.486C>T p.S162= Synonymous 5/6 - 2
6-170846385-C-A c.477G>T p.Q159H Missense 5/6 - 1
6-170846385-C-G c.477G>C p.Q159H Missense 5/6 - 1
6-170846385-C-T c.477G>A p.Q159= Synonymous 5/6 - 1
6-170846399-C-T c.463G>A p.V155I Missense 5/6 - 1
6-170846400-T-A c.462A>T p.P154= Synonymous 5/6 - 1
6-170846400-T-C c.462A>G p.P154= Synonymous 5/6 - 1
6-170846400-T-G c.462A>C p.P154= Synonymous 5/6 - 1
6-170846401-G-A c.461C>T p.P154L Missense 5/6 - 2
6-170846402-G-A c.460C>T p.P154S Missense 5/6 - 3
6-170846402-G-T c.460C>A p.P154T Missense 5/6 - 1
6-170846404-T-C c.458A>G p.D153G Missense 5/6 - 1
6-170846409-G-T c.453C>A p.S151R Missense 5/6 - 1
6-170846417-C-T c.445G>A p.V149I Missense 5/6 - 1
6-170847101-T-C c.434-673A>G - IntronicSNV - 4/5 1
6-170849763-GA-G c.433+2925del - IntronicDeletion - 4/5 1
6-170850862-G-A c.433+1827C>T - IntronicSNV - 4/5 1
6-170852561-A-G c.433+128T>C - IntronicSNV - 4/5 6
6-170852653-TC-T c.433+35del - IntronicDeletion - 4/5 1
6-170852679-G-A c.433+10C>T - IntronicSNV - 4/5 1
6-170852697-T-C c.425A>G p.D142G Missense 4/6 - 1
6-170852698-C-G c.424G>C p.D142H Missense 4/6 - 1
6-170852703-C-T c.419G>A p.G140E Missense 4/6 - 1
6-170852707-C-A c.415G>T p.G139C Missense 4/6 - 1
6-170852707-C-T c.415G>A p.G139S Missense 4/6 - 1
6-170852708-G-A c.414C>T p.I138= Synonymous 4/6 - 2
6-170852730-G-A c.392C>T p.P131L Missense 4/6 - 4
6-170852735-G-C c.387C>G p.F129L Missense 4/6 - 2
6-170852739-C-T c.383G>A p.R128H Missense 4/6 - 1
6-170852745-G-C c.377C>G p.S126* Nonsense 4/6 - 1
6-170852770-C-T c.352G>A p.A118T Missense 4/6 - 1
6-170852773-C-A c.349G>T p.A117S Missense 4/6 - 2
6-170852779-C-A c.343G>T p.A115S Missense 4/6 - 1
6-170852779-C-T c.343G>A p.A115T Missense 4/6 - 1
6-170852781-C-T c.341G>A p.G114E Missense 4/6 - 4
6-170852783-C-A c.339G>T p.T113= Synonymous 4/6 - 1
6-170852783-C-G c.339G>C p.T113= Synonymous 4/6 - 1
6-170852783-C-T c.339G>A p.T113= Synonymous 4/6 - 1
6-170852784-G-A c.338C>T p.T113M Missense 4/6 - 2
6-170852785-T-C c.337A>G p.T113A Missense 4/6 - 1
6-170852786-A-C c.336T>G p.T112= Synonymous 4/6 - 1
6-170852786-A-G c.336T>C p.T112= Synonymous 4/6 - 1
6-170852786-A-T c.336T>A p.T112= Synonymous 4/6 - 1
6-170852789-C-A c.333G>T p.M111I Missense 4/6 - 1
6-170852793-G-T c.329C>A p.A110D Missense 4/6 - 1
6-170852802-T-C c.320A>G p.N107S Missense 4/6 - 1
6-170852802-T-G c.320A>C p.N107T Missense 4/6 - 2
6-170852806-A-C c.316T>G p.S106A Missense 4/6 - 1
6-170852810-C-T c.312G>A p.K104= Synonymous 4/6 - 1
6-170852814-T-C c.308A>G p.Y103C Missense 4/6 - 1
6-170852815-A-G c.307T>C p.Y103H Missense 4/6 - 2
6-170852818-T-C c.304A>G p.M102V Missense 4/6 - 1
6-170855176-T-C c.303+15A>G - IntronicSNV - 3/5 1
6-170855195-A-C c.299T>G p.L100R Missense 3/6 - 1
6-170855207-A-G c.287T>C p.I96T Missense 3/6 - 1
6-170855218-CAG-AAA c.274_276delinsTTT p.L92F Missense 3/6 - 1
6-170855221-C-A c.273G>T p.T91= Synonymous 3/6 - 1
6-170855221-C-G c.273G>C p.T91= Synonymous 3/6 - 1
6-170855221-C-T c.273G>A p.T91= Synonymous 3/6 - 2
6-170855238-G-A c.256C>T p.H86Y Missense 3/6 - 5
6-170855244-C-T c.250G>A p.G84S Missense 3/6 - 4
6-170855245-G-A c.249C>T p.S83= Synonymous 3/6 - 1
6-170855249-CA-GC c.244_245delinsGC p.C82A Missense 3/6 - 1
6-170855255-A-G c.239T>C p.I80T Missense 3/6 - 2
6-170855257-G-A c.237C>T p.V79= Synonymous 3/6 - 1
6-170855257-G-C c.237C>G p.V79= Synonymous 3/6 - 1
6-170855257-G-T c.237C>A p.V79= Synonymous 3/6 - 1
6-170855265-T-C c.229A>G p.K77E Missense 3/6 - 2
6-170855352-T-C c.222-80A>G - IntronicSNV - 2/5 1
6-170856880-A-C c.221+1214T>G - IntronicSNV - 2/5 1
6-170856931-T-C c.221+1163A>G - IntronicSNV - 2/5 1
6-170858045-C-T c.221+49G>A - IntronicSNV - 2/5 8
6-170858094-A-C c.221T>G p.L74* Nonsense 2/6 - 2
6-170858094-A-T c.221T>A p.L74* Nonsense 2/6 - 2
6-170858096-T-A c.219A>T p.K73N Missense 2/6 - 1
6-170858096-T-G c.219A>C p.K73N Missense 2/6 - 1
6-170858100-T-C c.215A>G p.Y72C Missense 2/6 - 1
6-170858102-A-G c.213T>C p.C71= Synonymous 2/6 - 1
6-170858104-A-G c.211T>C p.C71R Missense 2/6 - 1
6-170858107-T-C c.208A>G p.K70E Missense 2/6 - 1
6-170858109-G-A c.206C>T p.P69L Missense 2/6 - 3
6-170858111-G-A c.204C>T p.S68= Synonymous 2/6 - 1
6-170858115-T-A c.200A>T p.D67V Missense 2/6 - 1
6-170858118-C-A c.197G>T p.R66L Missense 2/6 - 1
6-170858118-C-T c.197G>A p.R66Q Missense 2/6 - 4
6-170858117-C-A c.198G>T p.R66= Synonymous 2/6 - 1
6-170858117-C-G c.198G>C p.R66= Synonymous 2/6 - 1
6-170858117-C-T c.198G>A p.R66= Synonymous 2/6 - 1
6-170858119-G-T c.196C>A p.R66= Synonymous 2/6 - 1
6-170858121-G-A c.194C>T p.T65M Missense 2/6 - 1
6-170858130-G-C c.185C>G p.S62* Nonsense 2/6 - 1
6-170858130-G-T c.185C>A p.S62* Nonsense 2/6 - 1
6-170858134-A-C c.181T>G p.F61V Missense 2/6 - 1
6-170858136-C-A c.179G>T p.G60V Missense 2/6 - 1
6-170858142-C-T c.173G>A p.S58N Missense 2/6 - 1
6-170858149-G-A c.166C>T p.R56* Nonsense 2/6 - 1
6-170858151-G-A c.164C>T p.T55I Missense 2/6 - 1
6-170858152-T-C c.163A>G p.T55A Missense 2/6 - 1
6-170858167-T-C c.148A>G p.I50V Missense 2/6 - 2
6-170858176-C-T c.139G>A p.D47N Missense 2/6 - 1
6-170858174-ATCT-A c.138_140del p.E46del InFrameDeletion 2/6 - 1
6-170858179-C-A c.136G>T p.E46* Nonsense 2/6 - 1
6-170858180-TCC-CCA c.133_135delinsTGG p.G45W Missense 2/6 - 1
6-170858183-AGC-CTT c.130_132delinsAAG p.A44K Missense 2/6 - 1
6-170858185-C-T c.130G>A p.A44T Missense 2/6 - 1
6-170858186-A-C c.129T>G p.I43M Missense 2/6 - 1
6-170858188-T-A c.127A>T p.I43F Missense 2/6 - 3
6-170858189-TGC-ATA c.124_126delinsTAT p.A42Y Missense 2/6 - 2
6-170858196-A-G c.119T>C p.I40T Missense 2/6 - 1
6-170858200-T-C c.115A>G p.T39A Missense 2/6 - 1
6-170858520-A-C c.114-319T>G - IntronicSNV - 1/5 3
6-170862029-G-A c.113+189C>T - IntronicSNV - 1/5 1
6-170862029-G-T c.113+189C>A - IntronicSNV - 1/5 1
6-170862051-G-C c.113+167C>G - IntronicSNV - 1/5 3
6-170862222-C-T c.109G>A p.G37R Missense 1/6 - 1
6-170862236-GG-TC c.94_95delinsGA p.P32D Missense 1/6 - 1
6-170862244-TCG-ACA c.85_87delinsTGT p.R29C Missense 1/6 - 1
6-170862246-G-A c.85C>T p.R29* Nonsense 1/6 - 1
6-170862247-C-A c.84G>T p.L28= Synonymous 1/6 - 1
6-170862247-C-G c.84G>C p.L28= Synonymous 1/6 - 1
6-170862247-C-T c.84G>A p.L28= Synonymous 1/6 - 1
6-170862249-G-A c.82C>T p.L28= Synonymous 1/6 - 1
6-170862258-G-A c.73C>T p.P25S Missense 1/6 - 1
6-170862258-G-T c.73C>A p.P25T Missense 1/6 - 3
6-170862259-G-A c.72C>T p.G24= Synonymous 1/6 - 1
6-170862259-G-C c.72C>G p.G24= Synonymous 1/6 - 1
6-170862259-G-T c.72C>A p.G24= Synonymous 1/6 - 1
6-170862261-C-T c.70G>A p.G24S Missense 1/6 - 1
6-170862266-GC-CG c.64_65delinsCG p.A22R Missense 1/6 - 1
6-170862266-G-T c.65C>A p.A22D Missense 1/6 - 1
6-170862267-C-G c.64G>C p.A22P Missense 1/6 - 1
6-170862269-CT-TG c.61_62delinsCA p.R21Q Missense 1/6 - 1
6-170862280-C-A c.51G>T p.M17I Missense 1/6 - 1
6-170862280-C-G c.51G>C p.M17I Missense 1/6 - 1
6-170862280-C-T c.51G>A p.M17I Missense 1/6 - 1
6-170862284-C-A c.47G>T p.G16V Missense 1/6 - 1
6-170862286-C-A c.45G>T p.L15F Missense 1/6 - 2
6-170862286-C-G c.45G>C p.L15F Missense 1/6 - 2
6-170862291-C-G c.40G>C p.D14H Missense 1/6 - 2
6-170862293-C-T c.38G>A p.R13K Missense 1/6 - 1
6-170862298-A-C c.33T>G p.P11= Synonymous 1/6 - 2
6-170862298-A-G c.33T>C p.P11= Synonymous 1/6 - 2
6-170862298-A-T c.33T>A p.P11= Synonymous 1/6 - 2
6-170862300-G-C c.31C>G p.P11A Missense 1/6 - 45
6-170862301-A-C c.30T>G p.A10= Synonymous 1/6 - 1
6-170862301-A-G c.30T>C p.A10= Synonymous 1/6 - 1
6-170862301-AGC-CAT c.28_30delinsATG p.A10M Missense 1/6 - 1
6-170862301-A-T c.30T>A p.A10= Synonymous 1/6 - 1
6-170862302-G-A c.29C>T p.A10V Missense 1/6 - 1
6-170862302-G-C c.29C>G p.A10G Missense 1/6 - 2
6-170862302-GC-CA c.28_29delinsTG p.A10C Missense 1/6 - 1
6-170862305-G-A c.26C>T p.S9L Missense 1/6 - 1
6-170862307-A-C c.24T>G p.Y8* Nonsense 1/6 - 1
6-170862307-A-T c.24T>A p.Y8* Nonsense 1/6 - 1
6-170862308-T-C c.23A>G p.Y8C Missense 1/6 - 1
6-170862314-G-A c.17C>T p.A6V Missense 1/6 - 1
6-170862316-T-A c.15A>T p.T5= Synonymous 1/6 - 1
6-170862316-T-C c.15A>G p.T5= Synonymous 1/6 - 2
6-170862316-T-G c.15A>C p.T5= Synonymous 1/6 - 1
6-170862320-GA-CG c.10_11delinsCG p.S4R Missense 1/6 - 1
6-170862321-A-G c.10T>C p.S4P Missense 1/6 - 1
6-170862326-A-G c.5T>C p.L2S Missense 1/6 - 1
6-170862327-A-G c.4T>C p.L2= Synonymous 1/6 - 3
6-170862336-G-A c.-6C>T - 5-UTRSNV 1/6 - 4
6-170862336-G-C c.-6C>G - 5-UTRSNV 1/6 - 4