GPX7

GPX7 glutathione peroxidase 7

Annotation transcript: NM_015696.5

185 unique variant annotations were identified in 153 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
1-53068085-G-A c.4G>A p.V2M Missense 1/3 - 1
1-53068088-G-T c.7G>T p.A3S Missense 1/3 - 1
1-53068089-C-T c.8C>T p.A3V Missense 1/3 - 1
1-53068093-G-A c.12G>A p.A4= Synonymous 1/3 - 1
1-53068093-G-C c.12G>C p.A4= Synonymous 1/3 - 1
1-53068093-G-T c.12G>T p.A4= Synonymous 1/3 - 1
1-53068097-G-A c.16G>A p.V6M Missense 1/3 - 1
1-53068102-A-C c.21A>C p.A7= Synonymous 1/3 - 1
1-53068102-A-G c.21A>G p.A7= Synonymous 1/3 - 2
1-53068102-A-T c.21A>T p.A7= Synonymous 1/3 - 1
1-53068110-G-A c.29G>A p.W10* Nonsense 1/3 - 2
1-53068111-G-A c.30G>A p.W10* Nonsense 1/3 - 2
1-53068118-C-T c.37C>T p.L13= Synonymous 1/3 - 1
1-53068122-G-A c.41G>A p.W14* Nonsense 1/3 - 1
1-53068128-CG-AC c.47_48delinsAC p.A16D Missense 1/3 - 1
1-53068128-C-T c.47C>T p.A16V Missense 1/3 - 1
1-53068133-TG-GC c.52_53delinsGC p.C18A Missense 1/3 - 1
1-53068137-CG-AC c.56_57delinsAC p.A19D Missense 1/3 - 1
1-53068137-C-T c.56C>T p.A19V Missense 1/3 - 4
1-53068138-G-A c.57G>A p.A19= Synonymous 1/3 - 1
1-53068138-G-C c.57G>C p.A19= Synonymous 1/3 - 1
1-53068138-G-T c.57G>T p.A19= Synonymous 1/3 - 1
1-53068170-C-T c.89C>T p.A30V Missense 1/3 - 1
1-53068180-C-A c.99C>A p.I33= Synonymous 1/3 - 1
1-53068185-G-A c.104G>A p.G35D Missense 1/3 - 1
1-53068191-T-C c.110T>C p.L37P Missense 1/3 - 2
1-53068195-G-A c.114G>A p.V38= Synonymous 1/3 - 1
1-53068195-G-C c.114G>C p.V38= Synonymous 1/3 - 1
1-53068195-G-T c.114G>T p.V38= Synonymous 1/3 - 1
1-53068198-G-A c.117G>A p.S39= Synonymous 1/3 - 2
1-53068198-G-C c.117G>C p.S39= Synonymous 1/3 - 2
1-53068198-G-T c.117G>T p.S39= Synonymous 1/3 - 2
1-53068202-G-A c.121G>A p.E41K Missense 1/3 - 2
1-53068202-G-C c.121G>C p.E41Q Missense 1/3 - 1
1-53068213-C-A c.132C>A p.R44= Synonymous 1/3 - 1
1-53068213-C-G c.132C>G p.R44= Synonymous 1/3 - 1
1-53068213-C-T c.132C>T p.R44= Synonymous 1/3 - 1
1-53068214-G-A c.133G>A p.G45R Missense 1/3 - 1
1-53068214-G-C c.133G>C p.G45R Missense 1/3 - 3
1-53068217-TCG-CAT c.136_138delinsCAT p.S46H Missense 1/3 - 1
1-53068218-C-T c.137C>T p.S46L Missense 1/3 - 1
1-53068263-C-G c.138+44C>G - IntronicSNV - 1/2 1
1-53068263-C-T c.138+44C>T - IntronicSNV - 1/2 1
1-53068430-G-A c.138+211G>A - IntronicSNV - 1/2 1
1-53069514-C-G c.138+1295C>G - IntronicSNV - 1/2 4
1-53069514-C-T c.138+1295C>T - IntronicSNV - 1/2 4
1-53070393-C-A c.139-1963C>A - IntronicSNV - 1/2 1
1-53070393-C-G c.139-1963C>G - IntronicSNV - 1/2 1
1-53070393-C-T c.139-1963C>T - IntronicSNV - 1/2 1
1-53072362-C-T c.145C>T p.L49= Synonymous 2/3 - 1
1-53072364-G-A c.147G>A p.L49= Synonymous 2/3 - 1
1-53072364-G-C c.147G>C p.L49= Synonymous 2/3 - 1
1-53072364-G-T c.147G>T p.L49= Synonymous 2/3 - 1
1-53072370-G-A c.153G>A p.V51= Synonymous 2/3 - 1
1-53072370-G-C c.153G>C p.V51= Synonymous 2/3 - 1
1-53072370-G-T c.153G>T p.V51= Synonymous 2/3 - 1
1-53072373-T-C c.156T>C p.N52= Synonymous 2/3 - 1
1-53072374-GTG-ATC c.157_159delinsATC p.V53I Missense 2/3 - 2
1-53072382-C-T c.165C>T p.S55= Synonymous 2/3 - 3
1-53072383-G-A c.166G>A p.E56K Missense 2/3 - 1
1-53072383-G-T c.166G>T p.E56* Nonsense 2/3 - 1
1-53072385-G-C c.168G>C p.E56D Missense 2/3 - 1
1-53072385-G-T c.168G>T p.E56D Missense 2/3 - 1
1-53072386-TG-GC c.169_170delinsGC p.C57A Missense 2/3 - 1
1-53072387-G-A c.170G>A p.C57Y Missense 2/3 - 1
1-53072388-C-A c.171C>A p.C57* Nonsense 2/3 - 1
1-53072390-GC-AG c.173_174delinsAG p.G58E Missense 2/3 - 1
1-53072391-C-T c.174C>T p.G58= Synonymous 2/3 - 2
1-53072410-C-T c.193C>T p.R65* Nonsense 2/3 - 1
1-53072413-GC-TT c.196_197delinsTT p.A66F Missense 2/3 - 1
1-53072414-C-A c.197C>A p.A66D Missense 2/3 - 1
1-53072414-C-G c.197C>G p.A66G Missense 2/3 - 1
1-53072417-T-G c.200T>G p.L67R Missense 2/3 - 1
1-53072421-G-A c.204G>A p.Q68= Synonymous 2/3 - 1
1-53072422-CA-AT c.205_206delinsAT p.Q69M Missense 2/3 - 1
1-53072423-A-G c.206A>G p.Q69R Missense 2/3 - 1
1-53072432-G-A c.215G>A p.R72Q Missense 2/3 - 1
1-53072434-G-T c.217G>T p.D73Y Missense 2/3 - 1
1-53072440-G-A c.223G>A p.G75S Missense 2/3 - 1
1-53072441-G-A c.224G>A p.G75D Missense 2/3 - 1
1-53072452-T-A c.235T>A p.F79I Missense 2/3 - 1
1-53072454-T-C c.237T>C p.F79= Synonymous 2/3 - 21
1-53072454-T-G c.237T>G p.F79L Missense 2/3 - 7
1-53072457-C-T c.240C>T p.N80= Synonymous 2/3 - 1
1-53072458-G-A c.241G>A p.V81M Missense 2/3 - 2
1-53072463-C-A c.246C>A p.L82= Synonymous 2/3 - 1
1-53072463-C-G c.246C>G p.L82= Synonymous 2/3 - 1
1-53072463-C-T c.246C>T p.L82= Synonymous 2/3 - 1
1-53072464-G-A c.247G>A p.A83T Missense 2/3 - 3
1-53072464-GCC-TAA c.247_249delinsTAA p.A83* Nonsense 2/3 - 1
1-53072464-GC-TA c.247_248delinsTA p.A83Y Missense 2/3 - 1
1-53072467-T-C c.250T>C p.F84L Missense 2/3 - 1
1-53072470-C-T c.253C>T p.P85S Missense 2/3 - 1
1-53072473-TG-GC c.256_257delinsGC p.C86A Missense 2/3 - 1
1-53072476-A-C c.259A>C p.N87H Missense 2/3 - 1
1-53072479-C-A c.262C>A p.Q88K Missense 2/3 - 1
1-53072487-C-T c.270C>T p.G90= Synonymous 2/3 - 3
1-53072491-C-T c.274C>T p.Q92* Nonsense 2/3 - 2
1-53072492-A-C c.275A>C p.Q92P Missense 2/3 - 1
1-53072496-G-A c.279G>A p.E93= Synonymous 2/3 - 1
1-53072496-G-C c.279G>C p.E93D Missense 2/3 - 1
1-53072496-G-T c.279G>T p.E93D Missense 2/3 - 1
1-53072498-C-T c.281C>T p.P94L Missense 2/3 - 1
1-53072500-G-C c.283G>C p.D95H Missense 2/3 - 1
1-53072502-C-T c.285C>T p.D95= Synonymous 2/3 - 1
1-53072504-G-C c.287G>C p.S96T Missense 2/3 - 3
1-53072509-A-T c.292A>T p.K98* Nonsense 2/3 - 2
1-53072510-A-G c.293A>G p.K98R Missense 2/3 - 1
1-53072514-G-A c.297G>A p.E99= Synonymous 2/3 - 2
1-53072521-A-T c.304A>T p.S102C Missense 2/3 - 3
1-53072522-G-A c.305G>A p.S102N Missense 2/3 - 2
1-53072530-C-T c.313C>T p.R105C Missense 2/3 - 7
1-53072531-G-A c.314G>A p.R105H Missense 2/3 - 3
1-53072531-G-T c.314G>T p.R105L Missense 2/3 - 1
1-53072534-G-A c.317G>A p.R106H Missense 2/3 - 2
1-53072539-T-A c.322T>A p.Y108N Missense 2/3 - 1
1-53072543-G-A c.326G>A p.S109N Missense 2/3 - 2
1-53072555-C-T c.338C>T p.P113L Missense 2/3 - 3
1-53072558-T-C c.341T>C p.M114T Missense 2/3 - 1
1-53072563-A-C c.346A>C p.S116R Missense 2/3 - 1
1-53072565-C-A c.348C>A p.S116R Missense 2/3 - 1
1-53072565-C-G c.348C>G p.S116R Missense 2/3 - 1
1-53072580-C-A c.363C>A p.T121= Synonymous 2/3 - 1
1-53072580-C-G c.363C>G p.T121= Synonymous 2/3 - 1
1-53072580-C-T c.363C>T p.T121= Synonymous 2/3 - 2
1-53072581-G-A c.364G>A p.G122S Missense 2/3 - 1
1-53072581-G-C c.364G>C p.G122R Missense 2/3 - 1
1-53072582-G-A c.365G>A p.G122D Missense 2/3 - 2
1-53072587-G-A c.370G>A p.G124S Missense 2/3 - 1
1-53072591-C-T c.374C>T p.A125V Missense 2/3 - 1
1-53072596-CCT-TAA c.379_381delinsTAA p.P127* Nonsense 2/3 - 1
1-53072609-A-T c.392A>T p.Y131F Missense 2/3 - 1
1-53072617-C-G c.400C>G p.Q134E Missense 2/3 - 1
1-53072617-C-T c.400C>T p.Q134* Nonsense 2/3 - 2
1-53072618-G-A c.400+1G>A - IntronicSNV - 2/2 1
1-53072741-A-G c.400+124A>G - IntronicSNV - 2/2 7
1-53072741-A-T c.400+124A>T - IntronicSNV - 2/2 5
1-53072796-G-C c.400+179G>C - IntronicSNV - 2/2 2
1-53072796-G-T c.400+179G>T - IntronicSNV - 2/2 1
1-53073327-G-C c.401-607G>C - IntronicSNV - 2/2 2
1-53073943-G-A c.410G>A p.G137E Missense 3/3 - 1
1-53073943-G-T c.410G>T p.G137V Missense 3/3 - 1
1-53073948-G-A c.415G>A p.E139K Missense 3/3 - 3
1-53073949-A-C c.416A>C p.E139A Missense 3/3 - 1
1-53073950-G-C c.417G>C p.E139D Missense 3/3 - 1
1-53073950-G-T c.417G>T p.E139D Missense 3/3 - 2
1-53073955-C-A c.422C>A p.T141N Missense 3/3 - 1
1-53073965-C-T c.432C>T p.F144= Synonymous 3/3 - 1
1-53073967-G-T c.434G>T p.W145L Missense 3/3 - 5
1-53073970-AG-GC c.437_438delinsGC p.K146S Missense 3/3 - 1
1-53073971-G-C c.438G>C p.K146N Missense 3/3 - 1
1-53073971-G-T c.438G>T p.K146N Missense 3/3 - 1
1-53073983-C-T c.450C>T p.A150= Synonymous 3/3 - 3
1-53073984-C-T c.451C>T p.P151S Missense 3/3 - 1
1-53073985-C-T c.452C>T p.P151L Missense 3/3 - 1
1-53073986-A-C c.453A>C p.P151= Synonymous 3/3 - 1
1-53073986-A-G c.453A>G p.P151= Synonymous 3/3 - 1
1-53073986-A-T c.453A>T p.P151= Synonymous 3/3 - 2
1-53073988-A-G c.455A>G p.D152G Missense 3/3 - 1
1-53073995-G-A c.462G>A p.K154= Synonymous 3/3 - 1
1-53073995-G-C c.462G>C p.K154N Missense 3/3 - 1
1-53073995-G-T c.462G>T p.K154N Missense 3/3 - 1
1-53073999-G-A c.466G>A p.V156I Missense 3/3 - 1
1-53074000-T-C c.467T>C p.V156A Missense 3/3 - 2
1-53074009-G-A c.476G>A p.W159* Nonsense 3/3 - 1
1-53074010-G-A c.477G>A p.W159* Nonsense 3/3 - 2
1-53074011-G-A c.478G>A p.D160N Missense 3/3 - 2
1-53074017-A-C c.484A>C p.T162P Missense 3/3 - 1
1-53074017-A-G c.484A>G p.T162A Missense 3/3 - 1
1-53074020-G-C c.487G>C p.V163L Missense 3/3 - 1
1-53074020-G-T c.487G>T p.V163L Missense 3/3 - 1
1-53074034-G-A c.501G>A p.E167= Synonymous 3/3 - 1
1-53074035-G-A c.502G>A p.V168I Missense 3/3 - 2
1-53074041-C-A c.508C>A p.P170T Missense 3/3 - 2
1-53074059-G-A c.526G>A p.V176M Missense 3/3 - 1
1-53074070-C-T c.537C>T p.L179= Synonymous 3/3 - 3
1-53074071-A-C c.538A>C p.I180L Missense 3/3 - 2
1-53074074-C-G c.541C>G p.L181V Missense 3/3 - 1
1-53074076-A-G c.543A>G p.L181= Synonymous 3/3 - 1
1-53074077-C-G c.544C>G p.L182V Missense 3/3 - 1
1-53074083-C-T c.550C>T p.R184* Nonsense 3/3 - 1
1-53074092-CTT-C c.559_560del p.L187Ifs*56 Frameshift 3/3 - 2
1-53074094-A-C c.561A>C p.L187F Missense 3/3 - 1
1-53074096-A-C c.563A>C p.*188Sext*32 Missense 3/3 - 1
1-53074532-C-A c.*435C>A - 3-UTRSNV 3/3 - 7