PRDX6

PRDX6 peroxiredoxin 6

Annotation transcript: NM_004905.3

286 unique variant annotations were identified in 327 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
1-173446537-A-G c.1A>G p.M1? Missense 1/5 - 1
1-173446543-G-A c.7G>A p.G3R Missense 1/5 - 1
1-173446543-G-C c.7G>C p.G3R Missense 1/5 - 1
1-173446545-A-C c.9A>C p.G3= Synonymous 1/5 - 1
1-173446545-A-G c.9A>G p.G3= Synonymous 1/5 - 1
1-173446545-A-T c.9A>T p.G3= Synonymous 1/5 - 1
1-173446554-T-C c.18T>C p.L6= Synonymous 1/5 - 1
1-173446557-C-T c.21C>T p.L7= Synonymous 1/5 - 1
1-173446558-G-C c.22G>C p.G8R Missense 1/5 - 1
1-173446563-C-T c.27C>T p.D9= Synonymous 1/5 - 2
1-173446568-C-G c.32C>G p.A11G Missense 1/5 - 1
1-173446568-CT-AG c.32_33inv p.A11E Missense 1/5 - 1
1-173446577-T-G c.41T>G p.F14C Missense 1/5 - 1
1-173446579-G-C c.43G>C p.E15Q Missense 1/5 - 1
1-173446582-GCC-TAA c.46_48delinsTAA p.A16* Nonsense 1/5 - 1
1-173446586-A-G c.50A>G p.N17S Missense 1/5 - 1
1-173446592-C-T c.56C>T p.T19I Missense 1/5 - 1
1-173446594-G-A c.58G>A p.V20I Missense 1/5 - 1
1-173446597-G-T c.61G>T p.G21C Missense 1/5 - 1
1-173446598-G-A c.62G>A p.G21D Missense 1/5 - 3
1-173446600-C-T c.64C>T p.R22C Missense 1/5 - 1
1-173446601-G-A c.65G>A p.R22H Missense 1/5 - 3
1-173446604-T-A c.68T>A p.I23N Missense 1/5 - 1
1-173446606-C-T c.70C>T p.R24C Missense 1/5 - 2
1-173446612-CA-GC c.76_77delinsGC p.H26A Missense 1/5 - 9
1-173446614-C-T c.78C>T p.H26= Synonymous 1/5 - 1
1-173446620-T-G c.84T>G p.F28L Missense 1/5 - 1
1-173446621-CT-GA c.85_86delinsGA p.L29E Missense 1/5 - 1
1-173446622-T-C c.86T>C p.L29P Missense 1/5 - 1
1-173446622-TG-AT c.86_87delinsAT p.L29H Missense 1/5 - 1
1-173446624-G-A c.88G>A p.G30R Missense 1/5 - 1
1-173446624-G-C c.88G>C p.G30R Missense 1/5 - 1
1-173446625-G-A c.89G>A p.G30E Missense 1/5 - 1
1-173446628-A-C c.92A>C p.D31A Missense 1/5 - 4
1-173446630-T-A c.94T>A p.S32T Missense 1/5 - 4
1-173446630-T-G c.94T>G p.S32A Missense 1/5 - 13
1-173446631-C-T c.95C>T p.S32L Missense 1/5 - 1
1-173446665-C-T c.95+34C>T - IntronicSNV - 1/4 1
1-173446934-T-G c.95+303T>G - IntronicSNV - 1/4 1
1-173447548-A-G c.95+917A>G - IntronicSNV - 1/4 1
1-173447576-A-G c.95+945A>G - IntronicSNV - 1/4 1
1-173447656-T-C c.95+1025T>C - IntronicSNV - 1/4 1
1-173448261-G-A c.95+1630G>A - IntronicSNV - 1/4 3
1-173448396-A-G c.95+1765A>G - IntronicSNV - 1/4 1
1-173448495-A-G c.95+1864A>G - IntronicSNV - 1/4 2
1-173448495-A-T c.95+1864A>T - IntronicSNV - 1/4 2
1-173448500-A-G c.95+1869A>G - IntronicSNV - 1/4 2
1-173449036-G-A c.96-1429G>A - IntronicSNV - 1/4 2
1-173449036-G-C c.96-1429G>C - IntronicSNV - 1/4 2
1-173449624-T-C c.96-841T>C - IntronicSNV - 1/4 1
1-173449624-T-G c.96-841T>G - IntronicSNV - 1/4 1
1-173450475-CT-GC c.106_107delinsGC p.L36A Missense 2/5 - 1
1-173450478-TT-CA c.109_110delinsCA p.F37H Missense 2/5 - 1
1-173450482-C-G c.113C>G p.S38C Missense 2/5 - 1
1-173450482-C-T c.113C>T p.S38F Missense 2/5 - 4
1-173450483-C-T c.114C>T p.S38= Synonymous 2/5 - 1
1-173450498-T-G c.129T>G p.F43L Missense 2/5 - 1
1-173450499-A-G c.130A>G p.T44A Missense 2/5 - 1
1-173450503-C-A c.134C>A p.P45Q Missense 2/5 - 2
1-173450505-AG-A c.136del p.V46Cfs*23 Frameshift 2/5 - 1
1-173450508-T-A c.139T>A p.C47S Missense 2/5 - 32
1-173450508-TG-AC c.139_140delinsAC p.C47T Missense 2/5 - 1
1-173450508-TG-GC c.139_140delinsGC p.C47A Missense 2/5 - 7
1-173450509-G-C c.140G>C p.C47S Missense 2/5 - 32
1-173450510-C-T c.141C>T p.C47= Synonymous 2/5 - 3
1-173450511-A-G c.142A>G p.T48A Missense 2/5 - 1
1-173450512-C-T c.143C>T p.T48I Missense 2/5 - 1
1-173450514-A-T c.145A>T p.T49S Missense 2/5 - 1
1-173450515-C-G c.146C>G p.T49R Missense 2/5 - 1
1-173450516-A-G c.147A>G p.T49= Synonymous 2/5 - 1
1-173450520-C-T c.151C>T p.L51F Missense 2/5 - 1
1-173450527-G-A c.158G>A p.R53K Missense 2/5 - 1
1-173450535-A-C c.166A>C p.K56Q Missense 2/5 - 1
1-173450537-G-A c.168G>A p.K56= Synonymous 2/5 - 1
1-173450545-C-T c.176C>T p.P59L Missense 2/5 - 1
1-173450553-G-A c.184G>A p.A62T Missense 2/5 - 1
1-173450558-G-A c.189G>A p.K63= Synonymous 2/5 - 1
1-173450558-G-C c.189G>C p.K63N Missense 2/5 - 1
1-173450563-A-T c.194A>T p.N65I Missense 2/5 - 2
1-173450566-T-C c.197T>C p.V66A Missense 2/5 - 2
1-173450576-T-G c.207T>G p.I69M Missense 2/5 - 1
1-173450577-G-A c.208G>A p.A70T Missense 2/5 - 1
1-173450577-GC-TT c.208_209delinsTT p.A70F Missense 2/5 - 1
1-173450577-G-T c.208G>T p.A70S Missense 2/5 - 2
1-173450591-C-T c.222C>T p.D74= Synonymous 2/5 - 1
1-173450592-A-G c.223A>G p.S75G Missense 2/5 - 1
1-173450592-AG-GC c.223_224delinsGC p.S75A Missense 2/5 - 1
1-173450593-G-T c.224G>T p.S75I Missense 2/5 - 2
1-173450595-GTT-ATG c.226_228delinsATG p.V76M Missense 2/5 - 1
1-173450598-G-C c.229G>C p.E77Q Missense 2/5 - 1
1-173450607-C-T c.238C>T p.L80F Missense 2/5 - 1
1-173450611-C-T c.242C>T p.A81V Missense 2/5 - 2
1-173450614-G-A c.245G>A p.W82* Nonsense 2/5 - 1
1-173450662-G-A c.252+41G>A - IntronicSNV - 2/4 1
1-173450662-G-T c.252+41G>T - IntronicSNV - 2/4 1
1-173451088-G-A c.252+467G>A - IntronicSNV - 2/4 1
1-173452142-T-C c.252+1521T>C - IntronicSNV - 2/4 1
1-173454500-G-T c.253G>T p.D85Y Missense 3/5 - 2
1-173454505-C-G c.258C>G p.I86M Missense 3/5 - 2
1-173454517-T-C c.270T>C p.N90= Synonymous 3/5 - 1
1-173454518-T-A c.271T>A p.C91S Missense 3/5 - 11
1-173454518-TG-GC c.271_272delinsGC p.C91A Missense 3/5 - 2
1-173454519-G-C c.272G>C p.C91S Missense 3/5 - 11
1-173454529-C-A c.282C>A p.P94= Synonymous 3/5 - 1
1-173454529-C-G c.282C>G p.P94= Synonymous 3/5 - 1
1-173454529-C-T c.282C>T p.P94= Synonymous 3/5 - 2
1-173454530-A-C c.283A>C p.T95P Missense 3/5 - 1
1-173454533-G-A c.286G>A p.E96K Missense 3/5 - 3
1-173454533-G-T c.286G>T p.E96* Nonsense 3/5 - 4
1-173454538-G-A c.291G>A p.K97= Synonymous 3/5 - 1
1-173454548-C-T c.301C>T p.P101S Missense 3/5 - 7
1-173454549-C-T c.302C>T p.P101L Missense 3/5 - 3
1-173454551-A-G c.304A>G p.I102V Missense 3/5 - 3
1-173454556-C-A c.309C>A p.I103= Synonymous 3/5 - 1
1-173454556-C-T c.309C>T p.I103= Synonymous 3/5 - 1
1-173454557-G-A c.310G>A p.D104N Missense 3/5 - 2
1-173454558-A-T c.311A>T p.D104V Missense 3/5 - 1
1-173454561-A-G c.314A>G p.D105G Missense 3/5 - 3
1-173454563-A-G c.316A>G p.R106G Missense 3/5 - 3
1-173454564-G-T c.317G>T p.R106M Missense 3/5 - 2
1-173454565-G-A c.318G>A p.R106= Synonymous 3/5 - 2
1-173454569-C-A c.322C>A p.R108= Synonymous 3/5 - 1
1-173454569-C-T c.322C>T p.R108W Missense 3/5 - 6
1-173454571-G-A c.324G>A p.R108= Synonymous 3/5 - 1
1-173454571-G-C c.324G>C p.R108= Synonymous 3/5 - 1
1-173454571-G-T c.324G>T p.R108= Synonymous 3/5 - 1
1-173454570-G-A c.323G>A p.R108Q Missense 3/5 - 1
1-173454579-C-T c.332C>T p.A111V Missense 3/5 - 1
1-173454581-A-G c.334A>G p.I112V Missense 3/5 - 1
1-173454583-C-T c.336C>T p.I112= Synonymous 3/5 - 3
1-173454584-C-T c.337C>T p.L113= Synonymous 3/5 - 1
1-173454595-G-A c.348G>A p.M116I Missense 3/5 - 3
1-173454595-G-C c.348G>C p.M116I Missense 3/5 - 3
1-173454595-G-T c.348G>T p.M116I Missense 3/5 - 4
1-173454597-T-C c.350T>C p.L117P Missense 3/5 - 1
1-173454597-T-G c.350T>G p.L117R Missense 3/5 - 1
1-173454601-T-C c.354T>C p.D118= Synonymous 3/5 - 1
1-173454602-C-G c.355C>G p.P119A Missense 3/5 - 1
1-173454603-C-T c.356C>T p.P119L Missense 3/5 - 6
1-173454606-C-A c.359C>A p.A120E Missense 3/5 - 1
1-173454612-A-G c.365A>G p.K122R Missense 3/5 - 2
1-173454615-A-G c.368A>G p.D123G Missense 3/5 - 1
1-173454616-T-A c.369T>A p.D123E Missense 3/5 - 1
1-173454616-T-G c.369T>G p.D123E Missense 3/5 - 1
1-173454617-G-A c.370G>A p.E124K Missense 3/5 - 2
1-173454617-G-T c.370G>T p.E124* Nonsense 3/5 - 1
1-173454617-GA-G c.374del p.K125Rfs*5 Frameshift 3/5 - 2
1-173454622-G-A c.375G>A p.K125= Synonymous 3/5 - 1
1-173454624-G-A c.377G>A p.G126D Missense 3/5 - 1
1-173454624-G-T c.377G>T p.G126V Missense 3/5 - 1
1-173454637-A-G c.390A>G p.T130= Synonymous 3/5 - 1
1-173454637-A-T c.390A>T p.T130= Synonymous 3/5 - 1
1-173454641-C-T c.394C>T p.R132C Missense 3/5 - 6
1-173454642-G-A c.395G>A p.R132H Missense 3/5 - 1
1-173454754-A-G c.399+108A>G - IntronicSNV - 3/4 1
1-173455405-TG-T c.413del p.G138Vfs*6 Frameshift 4/5 - 2
1-173455410-C-T c.416C>T p.P139L Missense 4/5 - 5
1-173455411-T-C c.417T>C p.P139= Synonymous 4/5 - 1
1-173455413-A-C c.419A>C p.D140A Missense 4/5 - 15
1-173455417-G-A c.423G>A p.K141= Synonymous 4/5 - 1
1-173455419-A-G c.425A>G p.K142R Missense 4/5 - 3
1-173455420-G-A c.426G>A p.K142= Synonymous 4/5 - 1
1-173455423-G-A c.429G>A p.L143= Synonymous 4/5 - 2
1-173455423-G-C c.429G>C p.L143= Synonymous 4/5 - 2
1-173455426-G-A c.432G>A p.K144= Synonymous 4/5 - 1
1-173455427-CT-GA c.433_434delinsGA p.L145E Missense 4/5 - 1
1-173455427-CT-GC c.433_434delinsGC p.L145A Missense 4/5 - 2
1-173455429-G-A c.435G>A p.L145= Synonymous 4/5 - 1
1-173455436-CTC-ATG c.442_444delinsATG p.L148M Missense 4/5 - 1
1-173455436-CTC-GAG c.442_444inv p.L148E Missense 4/5 - 1
1-173455436-CT-GC c.442_443delinsGC p.L148A Missense 4/5 - 1
1-173455443-C-A c.449C>A p.P150Q Missense 4/5 - 1
1-173455445-G-A c.451G>A p.A151T Missense 4/5 - 1
1-173455447-T-C c.453T>C p.A151= Synonymous 4/5 - 1
1-173455450-C-A c.456C>A p.T152= Synonymous 4/5 - 1
1-173455450-C-G c.456C>G p.T152= Synonymous 4/5 - 1
1-173455450-C-T c.456C>T p.T152= Synonymous 4/5 - 1
1-173455453-T-G c.459T>G p.T153= Synonymous 4/5 - 1
1-173455458-GG-TC c.464_465delinsTC p.R155I Missense 4/5 - 1
1-173455457-A-C c.463A>C p.R155= Synonymous 4/5 - 1
1-173455459-G-A c.465G>A p.R155= Synonymous 4/5 - 2
1-173455459-G-C c.465G>C p.R155S Missense 4/5 - 1
1-173455461-A-G c.467A>G p.N156S Missense 4/5 - 1
1-173455466-G-A c.472G>A p.D158N Missense 4/5 - 4
1-173455471-G-C c.477G>C p.E159D Missense 4/5 - 1
1-173455471-G-T c.477G>T p.E159D Missense 4/5 - 1
1-173455474-T-G c.480T>G p.I160M Missense 4/5 - 1
1-173455475-C-A c.481C>A p.L161I Missense 4/5 - 3
1-173455477-C-A c.483C>A p.L161= Synonymous 4/5 - 1
1-173455477-C-G c.483C>G p.L161= Synonymous 4/5 - 1
1-173455477-C-T c.483C>T p.L161= Synonymous 4/5 - 1
1-173455479-G-A c.485G>A p.R162K Missense 4/5 - 1
1-173455480-G-C c.486G>C p.R162S Missense 4/5 - 2
1-173455480-G-T c.486G>T p.R162S Missense 4/5 - 3
1-173455484-G-A c.490G>A p.V164I Missense 4/5 - 1
1-173455490-TC-CT c.496_497delinsCT p.S166L Missense 4/5 - 1
1-173455496-C-T c.502C>T p.Q168* Nonsense 4/5 - 1
1-173455499-C-A c.505C>A p.L169M Missense 4/5 - 1
1-173455500-T-A c.506T>A p.L169Q Missense 4/5 - 1
1-173455499-C-T c.505C>T p.L169= Synonymous 4/5 - 1
1-173455501-G-A c.507G>A p.L169= Synonymous 4/5 - 1
1-173455501-G-C c.507G>C p.L169= Synonymous 4/5 - 1
1-173455501-G-T c.507G>T p.L169= Synonymous 4/5 - 1
1-173455503-C-A c.509C>A p.T170K Missense 4/5 - 1
1-173455505-G-A c.511G>A p.A171T Missense 4/5 - 1
1-173455506-C-A c.512C>A p.A171E Missense 4/5 - 1
1-173455506-C-T c.512C>T p.A171V Missense 4/5 - 1
1-173455508-G-A c.514G>A p.E172K Missense 4/5 - 1
1-173455510-A-C c.516A>C p.E172D Missense 4/5 - 1
1-173455510-A-T c.516A>T p.E172D Missense 4/5 - 1
1-173455511-A-T c.517A>T p.K173* Nonsense 4/5 - 1
1-173455508-G-GA c.520dup p.R174Kfs*7 Frameshift 4/5 - 2
1-173455515-G-A c.521G>A p.R174K Missense 4/5 - 3
1-173455515-G-T c.521G>T p.R174M Missense 4/5 - 1
1-173455520-G-A c.526G>A p.A176T Missense 4/5 - 2
1-173455521-C-G c.527C>G p.A176G Missense 4/5 - 1
1-173455523-ACC-GAG c.529_531delinsGAG p.T177E Missense 4/5 - 1
1-173455523-A-G c.529A>G p.T177A Missense 4/5 - 3
1-173455525-C-A c.531C>A p.T177= Synonymous 4/5 - 2
1-173455525-C-G c.531C>G p.T177= Synonymous 4/5 - 2
1-173455525-C-T c.531C>T p.T177= Synonymous 4/5 - 2
1-173455533-A-C c.539A>C p.D180A Missense 4/5 - 1
1-173455540-G-A c.546G>A p.K182= Synonymous 4/5 - 2
1-173455617-G-A c.546+77G>A - IntronicSNV - 4/4 1
1-173455643-A-G c.546+103A>G - IntronicSNV - 4/4 1
1-173455676-G-A c.546+136G>A - IntronicSNV - 4/4 1
1-173456445-A-G c.547-429A>G - IntronicSNV - 4/4 1
1-173456875-A-T c.548A>T p.D183V Missense 5/5 - 1
1-173456877-G-A c.550G>A p.G184R Missense 5/5 - 1
1-173456877-G-C c.550G>C p.G184R Missense 5/5 - 1
1-173456878-G-T c.551G>T p.G184V Missense 5/5 - 1
1-173456879-G-A c.552G>A p.G184= Synonymous 5/5 - 1
1-173456881-A-C c.554A>C p.D185A Missense 5/5 - 1
1-173456881-A-G c.554A>G p.D185G Missense 5/5 - 1
1-173456886-G-A c.559G>A p.V187M Missense 5/5 - 1
1-173456886-G-C c.559G>C p.V187L Missense 5/5 - 1
1-173456886-G-T c.559G>T p.V187L Missense 5/5 - 1
1-173456888-G-A c.561G>A p.V187= Synonymous 5/5 - 1
1-173456893-T-C c.566T>C p.V189A Missense 5/5 - 2
1-173456897-T-A c.570T>A p.L190= Synonymous 5/5 - 2
1-173456897-T-C c.570T>C p.L190= Synonymous 5/5 - 2
1-173456897-T-G c.570T>G p.L190= Synonymous 5/5 - 3
1-173456905-T-C c.578T>C p.I193T Missense 5/5 - 1
1-173456908-C-T c.581C>T p.P194L Missense 5/5 - 3
1-173456917-A-C c.590A>C p.E197A Missense 5/5 - 1
1-173456924-A-AT c.597_598insT p.K200* Nonsense 5/5 - 1
1-173456924-A-G c.597A>G p.K199= Synonymous 5/5 - 1
1-173456925-A-C c.598A>C p.K200Q Missense 5/5 - 3
1-173456921-C-CA c.600dup p.L201Tfs*34 Frameshift 5/5 - 2
1-173456928-C-G c.601C>G p.L201V Missense 5/5 - 1
1-173456932-T-A c.605T>A p.F202Y Missense 5/5 - 1
1-173456933-C-T c.606C>T p.F202= Synonymous 5/5 - 2
1-173456935-C-A c.608C>A p.P203Q Missense 5/5 - 1
1-173456935-C-T c.608C>T p.P203L Missense 5/5 - 1
1-173456936-G-A c.609G>A p.P203= Synonymous 5/5 - 3
1-173456936-G-C c.609G>C p.P203= Synonymous 5/5 - 2
1-173456936-G-T c.609G>T p.P203= Synonymous 5/5 - 3
1-173456939-A-G c.612A>G p.K204= Synonymous 5/5 - 1
1-173456943-G-T c.616G>T p.V206F Missense 5/5 - 3
1-173456950-CC-TG c.623_624delinsTG p.T208M Missense 5/5 - 1
1-173456954-A-G c.627A>G p.K209= Synonymous 5/5 - 1
1-173456955-G-C c.628G>C p.E210Q Missense 5/5 - 1
1-173456958-C-T c.631C>T p.L211F Missense 5/5 - 1
1-173456962-C-T c.635C>T p.P212L Missense 5/5 - 3
1-173456965-C-T c.638C>T p.S213F Missense 5/5 - 3
1-173456967-G-C c.640G>C p.G214R Missense 5/5 - 1
1-173456971-A-G c.644A>G p.K215R Missense 5/5 - 2
1-173456972-G-A c.645G>A p.K215= Synonymous 5/5 - 1
1-173456972-G-C c.645G>C p.K215N Missense 5/5 - 1
1-173456972-G-T c.645G>T p.K215N Missense 5/5 - 1
1-173456978-C-G c.651C>G p.Y217* Nonsense 5/5 - 2
1-173456983-G-A c.656G>A p.R219H Missense 5/5 - 3
1-173456988-A-T c.661A>T p.T221S Missense 5/5 - 1
1-173456989-C-G c.662C>G p.T221R Missense 5/5 - 1
1-173456996-G-C c.669G>C p.Q223H Missense 5/5 - 1
1-173456996-G-T c.669G>T p.Q223H Missense 5/5 - 1
1-173457017-C-T c.*15C>T - 3-UTRSNV 5/5 - 8
1-173457072-C-A c.*70C>A - 3-UTRSNV 5/5 - 1
1-173457578-G-A c.*576G>A - 3-UTRSNV 5/5 - 1
1-173457599-A-G c.*597A>G - 3-UTRSNV 5/5 - 7
1-173457599-A-T c.*597A>T - 3-UTRSNV 5/5 - 7
1-173457601-A-G c.*599A>G - 3-UTRSNV 5/5 - 1
1-173457654-T-A c.*652T>A - 3-UTRSNV 5/5 - 1
1-173457728-G-A c.*726G>A - 3-UTRSNV 5/5 - 1
1-173457810-A-G c.*808A>G - 3-UTRSNV 5/5 - 1
1-173457834-G-A c.*832G>A - 3-UTRSNV 5/5 - 51