GSR (glutathione-disulfide reductase) - Rat Genome Database

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Gene: GSR (glutathione-disulfide reductase) Homo sapiens
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Symbol: GSR
Name: glutathione-disulfide reductase
RGD ID: 732221
HGNC Page HGNC:4623
Description: Predicted to enable flavin adenine dinucleotide binding activity and glutathione-disulfide reductase (NADPH) activity. Predicted to be involved in cell redox homeostasis; cellular response to oxidative stress; and glutathione metabolic process. Located in cytosol. Implicated in macular degeneration. Biomarker of several diseases, including artery disease (multiple); cataract (multiple); congenital hemolytic anemia (multiple); hematologic cancer (multiple); and microcytic anemia (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CNSHA10; epididymis luminal protein 75; epididymis secretory sperm binding protein Li 122m; glutathione reductase; glutathione reductase, mitochondrial; glutathione S-reductase; GR; GRase; GSRD; HEL-75; HEL-S-122m; MGC78522
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38830,678,066 - 30,727,846 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl830,678,066 - 30,727,846 (-)EnsemblGRCh38hg38GRCh38
GRCh37830,535,583 - 30,585,363 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36830,655,977 - 30,704,985 (-)NCBINCBI36Build 36hg18NCBI36
Build 34830,655,976 - 30,704,985NCBI
Celera829,494,968 - 29,543,967 (-)NCBICelera
Cytogenetic Map8p12NCBI
HuRef829,080,197 - 29,130,251 (-)NCBIHuRef
CHM1_1830,737,741 - 30,787,638 (-)NCBICHM1_1
T2T-CHM13v2.0830,957,535 - 31,007,300 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (ISO)
acute kidney tubular necrosis  (ISO)
Acute Lung Injury  (ISO)
acute lymphoblastic leukemia  (IEP)
acute myeloid leukemia  (IEP)
alcohol-induced mental disorder  (ISO)
Alzheimer's disease  (IEP,ISO)
amyotrophic lateral sclerosis  (EXP)
anemia  (EXP)
Arsenic Poisoning  (ISO)
beta thalassemia  (IEP)
Cadmium Poisoning  (ISO)
Cardiac Fibrosis  (ISO)
Cardiomegaly  (ISO)
cataract  (IEP,ISO)
Chemical and Drug Induced Liver Injury  (EXP,ISO)
Cognitive Dysfunction  (IEP)
congenital hemolytic anemia  (IEP)
Congenital Nonspherocytic Hemolytic Anemia 10  (IAGP)
contact dermatitis  (EXP)
coronary artery disease  (IEP)
dementia  (IEP)
diabetes mellitus  (IEP)
diabetic angiopathy  (IEP)
diabetic cataract  (IEP)
Diabetic Nephropathies  (IEP,ISO)
Edema  (EXP)
end stage renal disease  (IEP)
Endotoxemia  (ISO)
Experimental Diabetes Mellitus  (EXP,ISO)
Heinz body anemia  (IEP)
hemolytic anemia  (EXP)
hemorrhagic cystitis  (ISO)
Huntington's disease  (ISO)
Hypercholesterolemia  (ISO)
hypertension  (IEP,ISO)
hyperthyroidism  (EXP,ISO)
hypoglycemia  (EXP)
iron deficiency anemia  (IEP)
Kidney Reperfusion Injury  (ISO)
Knee Osteoarthritis  (IEP)
Liver Injury  (ISO)
Lung Injury  (ISO)
lymphoid leukemia  (IEP)
macular degeneration  (IDA)
metabolic dysfunction-associated steatotic liver disease  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
myoglobinuria  (ISO)
nephrolithiasis  (ISO)
neurodegenerative disease  (EXP)
Organophosphate Poisoning  (ISO)
osteoporosis  (IEP)
Parkinsonism  (EXP,ISO)
peptic ulcer disease  (ISO)
polycythemia vera  (IEP)
Premature Aging  (ISO)
Protein Deficiency  (EXP)
renal cell carcinoma  (IEP)
Reperfusion Injury  (ISO)
senile cataract  (IEP)
sickle cell anemia  (ISO)
Sleep Deprivation  (ISO)
Testicular Injury  (ISO)
transient cerebral ischemia  (ISO)
Ureteral Calculi  (EXP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-beta-thujone  (EXP)
(+)-catechin  (ISO)
(+)-schisandrin B  (ISO)
(+)-sesamin  (ISO)
(+)-taxifolin  (ISO)
(+)-trans-(S)-allethrin  (EXP)
(+/-)-Aegeline  (ISO)
(-)-epigallocatechin 3-gallate  (EXP,ISO)
(1->4)-beta-D-glucan  (ISO)
(aminooxy)acetic acid  (ISO)
(E)-cinnamyl alcohol  (EXP)
(R)-camphor  (EXP)
(R)-linalyl acetate  (EXP)
(R)-lipoic acid  (EXP,ISO)
(R,R,R)-alpha-tocopherol  (ISO)
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-(-)-perillyl alcohol  (ISO)
(S)-coclaurine  (ISO)
(S)-colchicine  (ISO)
(S)-naringenin  (EXP,ISO)
(S)-nicotine  (ISO)
1'-acetoxychavicol acetate  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dichloropropan-2-ol  (ISO)
1,8-cineole  (EXP)
1-bromopropane  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP,ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
1H-pyrazole  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-tribromophenol  (EXP)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-D  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-dihydroxybenzoic acid  (ISO)
2,6-dinitrotoluene  (ISO)
2-(chloromethyl)pyridine  (EXP)
2-acetamidofluorene  (ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
2-hydroxypropanoic acid  (EXP)
2-nitrofluorene  (ISO)
2-tert-butylhydroquinone  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-dihydroxybenzaldehyde  (EXP)
3,4-dihydroxybenzoic acid  (ISO)
3-[(4-anilinophenyl)diazenyl]benzene-1-sulfonic acid  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
3-nitropropanoic acid  (ISO)
3-O-Caffeoyl-1-O-methylquinic acid  (EXP)
3-phenylprop-2-enal  (EXP,ISO)
3H-1,2-dithiole-3-thione  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hexylbenzene-1,3-diol  (EXP)
4-hydroxy-TEMPO  (ISO)
4-hydroxynon-2-enal  (ISO)
4-methoxycinnamic acid  (ISO)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
9,11,13-octadecatrienoic acid  (ISO)
9-cis,11-trans-octadecadienoic acid  (ISO)
acetic acid  (ISO)
acrolein  (ISO)
acrylamide  (EXP)
aflatoxin B1  (ISO)
alcohol  (ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
allopurinol  (ISO)
alloxan  (ISO)
allyl isothiocyanate  (EXP,ISO)
alpha,alpha-trehalose  (ISO)
Alpha-Boswellic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
alpha-hexylcinnamaldehyde  (EXP)
alpha-naphthoflavone  (EXP)
alternariol  (EXP)
aluminium atom  (ISO)
aluminium(0)  (ISO)
AM-251  (ISO)
aminoacetone  (ISO)
amitrole  (ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
amoxicillin  (ISO)
amphibole asbestos  (EXP)
andrographolide  (ISO)
Anetholtrithion  (EXP)
anthocyanin  (ISO)
apigenin  (ISO)
arachidonyl-2'-chloroethylamide  (ISO)
arjunolic acid  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP,ISO)
aspartame  (ISO)
astaxanthin  (ISO)
atrazine  (EXP,ISO)
Augmentin  (EXP)
auranofin  (EXP)
azathioprine  (EXP)
azoxystrobin  (EXP)
Bacoside a  (ISO)
Bandrowski's base  (EXP)
benfotiamine  (ISO)
benidipine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzoic acid  (EXP)
benzopyran  (ISO)
Benzoyl peroxide  (ISO)
benzyl isothiocyanate  (EXP,ISO)
berberine  (ISO)
beta-carotene  (ISO)
beta-hexachlorocyclohexane  (ISO)
beta-naphthoflavone  (EXP)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bis-4-nitrophenyl phosphate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
bortezomib  (EXP)
Brodifacoum  (ISO)
bromoacetate  (EXP)
brucine  (ISO)
butane-2,3-dione  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
cadmium sulfate  (ISO)
cadmium sulfide  (EXP)
caffeine  (ISO)
calcium atom  (ISO)
calcium silicate  (ISO)
calcium(0)  (ISO)
camphene  (ISO)
camphor  (EXP)
camptothecin  (ISO)
cannabidiol  (EXP,ISO)
capsaicin  (ISO)
captan  (ISO)
carbamate ester  (EXP)
carbimazole  (ISO)
carbon nanotube  (EXP,ISO)
carbonyl cyanide p-trifluoromethoxyphenylhydrazone  (EXP)
carboplatin  (ISO)
carmustine  (EXP,ISO)
carnosic acid  (EXP,ISO)
carnosine  (EXP)
cefaloridine  (ISO)
cefazolin  (ISO)
celastrol  (EXP,ISO)
chalcones  (ISO)
chitosan  (ISO)
chloric acid  (EXP)
chlorite  (EXP)
chloroacetaldehyde  (EXP)
chloroform  (ISO)
chlorogenic acid  (ISO)
chloroprene  (ISO)
chloroquine  (ISO)
chlorpromazine  (ISO)
chlorpyrifos  (EXP,ISO)
choline  (ISO)
chromium atom  (ISO)
chromium(3+) trichloride  (ISO)
chromium(6+)  (EXP,ISO)
chrysin  (ISO)
cidofovir anhydrous  (EXP)
cinnamyl alcohol  (EXP)
cis-caffeic acid  (EXP,ISO)
cisplatin  (EXP,ISO)
citraconic acid  (ISO)
citral  (ISO)
clavulanic acid  (EXP)
clobetasol  (ISO)
clodronic acid  (EXP)
cobalt atom  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
coenzyme Q10  (ISO)
colistin  (ISO)
coniferyl aldehyde  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
corilagin  (ISO)
coumarin  (ISO)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (EXP,ISO)
cumene hydroperoxide  (ISO)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cycloartenol  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
cyfluthrin  (EXP,ISO)
cyhalothrin  (ISO)
cylindrospermopsin  (EXP)
cypermethrin  (ISO)
cyproconazole  (ISO)
D-glucose  (EXP,ISO)
daidzein  (ISO)
dapagliflozin  (ISO)
dapsone  (ISO)
decabromodiphenyl ether  (EXP)
deguelin  (EXP)
delta-hexachlorocyclohexane  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diallyl disulfide  (ISO)
Diallyl sulfide  (ISO)
diallyl trisulfide  (ISO)
Diallyltetrasulfane  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dibenziodolium  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dichloromethane  (ISO)
dichlorvos  (ISO)
dieckol  (ISO)
diethyl malate  (ISO)
diethyl maleate  (ISO)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
digoxin  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethoate  (ISO)
dimethyl fumarate  (ISO)
dimethylarsinic acid  (EXP)
dioscin  (ISO)
diosmin  (ISO)
dioxygen  (EXP,ISO)
diprotium oxide  (ISO)
diquat  (ISO)
disodium selenite  (EXP,ISO)
disulfiram  (EXP)
diuron  (ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
ebselen  (ISO)
elemental selenium  (ISO)
ellagic acid  (ISO)
emodin  (EXP)
endosulfan  (ISO)
endrin  (ISO)
enilconazole  (ISO)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
eugenol  (EXP)
EUK-134  (ISO)
evofosfamide  (ISO)
farnesol  (ISO)
fenitrothion  (ISO)
fenofibrate  (ISO)
fenvalerate  (ISO)
ferric oxide  (EXP)
finasteride  (ISO)
fipronil  (EXP,ISO)
fisetin  (ISO)
flutamide  (ISO)
fluvastatin  (ISO)
folic acid  (ISO)
folpet  (ISO)
fructose  (ISO)
furan  (ISO)
furans  (EXP)
furosemide  (ISO)
galangin  (ISO)
gallic acid  (ISO)
gallocatechin  (EXP)
gamma-hexachlorocyclohexane  (EXP,ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
geranial  (ISO)
geraniol  (ISO)
gliclazide  (ISO)
glucose  (EXP,ISO)
glutaraldehyde  (EXP)
glutathione  (EXP,ISO)
glutathione disulfide  (EXP,ISO)
glyburide  (ISO)
glyphosate  (ISO)
GW 4064  (ISO)
hemin  (EXP)
Heptachlor epoxide  (ISO)
herbacetin  (ISO)
hesperetin  (ISO)
hesperidin  (ISO)
Hexachloro-1,3-butadiene  (ISO)
hexadecanoic acid  (EXP)
hexane  (EXP)
homocysteine  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (ISO)
hydroxytyrosol  (EXP)
hypochlorous acid  (EXP,ISO)
iberin  (ISO)
idarubicin  (EXP)
ifosfamide  (EXP)
Illudin S  (EXP)
imidacloprid  (ISO)
indirubin-3'-monoxime  (EXP)
indole-3-acetic acid  (ISO)
indometacin  (EXP,ISO)
inulin  (ISO)
irofulven  (EXP)
iron atom  (ISO)
iron dextran  (ISO)
iron trichloride  (ISO)
iron(0)  (ISO)
iron(III) nitrilotriacetate  (ISO)
isocyanates  (EXP)
isoeugenol  (EXP)
isoliquiritigenin  (ISO)
isoprenaline  (ISO)
isotretinoin  (ISO)
ivermectin  (EXP)
juglone  (EXP)
kainic acid  (ISO)
ketoconazole  (ISO)
ketorolac tromethamine  (ISO)
kojic acid  (ISO)
L-ascorbic acid  (EXP,ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead nitrate  (ISO)
lead(0)  (ISO)
lead(II) chloride  (EXP)
leflunomide  (ISO)
Leonurine  (ISO)
letrozole  (ISO)
limonin  (ISO)
linalool  (EXP)
linalyl acetate  (EXP)
lipoic acid  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
liquiritigenin  (ISO)
liquiritin  (ISO)
lithium carbonate  (ISO)
lupeol  (ISO)
lutein  (ISO)
luzindole  (ISO)
LY294002  (EXP)
lycopene  (ISO)
maculosin  (ISO)
magnesium sulfate  (ISO)
malathion  (ISO)
maneb  (ISO)
manganese atom  (EXP,ISO)
manganese(0)  (EXP,ISO)
manganese(II) chloride  (EXP,ISO)
mangiferin  (EXP,ISO)
melatonin  (EXP,ISO)
menadione  (EXP)
mercury atom  (EXP,ISO)
mercury dibromide  (EXP)
mercury dichloride  (EXP,ISO)
mercury(0)  (EXP,ISO)
metformin  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
methyl salicylate  (EXP)
methylglyoxal  (ISO)
methylmercury chloride  (EXP,ISO)
methylphenidate  (ISO)
microcystin  (ISO)
microcystin-LR  (EXP,ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monobenzyl phthalate  (ISO)
monocrotaline  (ISO)
monocrotophos  (ISO)
monoethyl phthalate  (ISO)
monosodium L-glutamate  (ISO)
morin  (ISO)
motexafin gadolinium  (EXP)
myricetin  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N,N-dimethylformamide  (ISO)
N,N-dimethylglycine  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
NAD zwitterion  (ISO)
NAD(+)  (ISO)
NADP zwitterion  (EXP,ISO)
NADP(+)  (EXP,ISO)
naphthalene  (ISO)
naringin  (EXP,ISO)
nefazodone  (ISO)
nickel atom  (ISO)
nickel sulfate  (EXP,ISO)
nicotinamide  (ISO)
nicotine  (ISO)
nilotinib  (ISO)
nimesulide  (ISO)
nitric oxide  (ISO)
nitrofurantoin  (EXP,ISO)
nitrogen dioxide  (ISO)
nobiletin  (ISO)
Nonylphenol  (ISO)
O-acetyl-L-carnitine  (ISO)
obeticholic acid  (EXP,ISO)
ochratoxin A  (ISO)
oleanolic acid  (ISO)
oridonin  (ISO)
orlistat  (ISO)
oxidopamine  (EXP,ISO)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
p-toluidine  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
parathion-methyl  (ISO)
parthenolide  (ISO)
patulin  (EXP,ISO)
pentachlorophenol  (ISO)
pentetrazol  (ISO)
perfluorobutyric acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
perillyl alcohol  (ISO)
permethrin  (ISO)
peroxynitrous acid  (ISO)
phenanthrene  (EXP)
phenethyl caffeate  (ISO)
phenethyl isothiocyanate  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phytol  (ISO)
pinostrobin  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
potassium bromate  (EXP,ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prochloraz  (ISO)
prodigiosin  (ISO)
propan-2-ol  (EXP)
propiconazole  (ISO)
pterostilbene  (EXP,ISO)
puerarin  (ISO)
Pyridostigmine bromide  (ISO)
pyridoxamine  (ISO)
pyrogallol  (ISO)
quartz  (EXP)
quercetin  (EXP,ISO)
quinalphos  (ISO)
rac-lactic acid  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP,ISO)
riboflavin  (EXP,ISO)
rifampicin  (ISO)
rotenone  (EXP,ISO)
rutin  (EXP,ISO)
ruxolitinib  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP,ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
S-allylcysteine  (ISO)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP,ISO)
sabinene  (EXP)
salubrinal  (ISO)
sanguinarine  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
scopolamine  (ISO)
selenic acid  (EXP)
selenium atom  (ISO)
selenomethionine  (EXP)
serotonin  (ISO)
silibinin  (ISO)
silicon atom  (ISO)
silicon carbide  (EXP)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium chlorate  (ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sodium nitrate  (ISO)
sodium nitrite  (EXP)
spathulenol  (EXP)
spironolactone  (ISO)
squalene  (ISO)
streptozocin  (ISO)
sucrose  (ISO)
sulfasalazine  (ISO)
sulforaphane  (EXP,ISO)
syringic acid  (EXP)
T-2 toxin  (ISO)
tacrine  (ISO)
tamoxifen  (ISO)
tangeretin  (ISO)
taurine  (ISO)
tebuconazole  (ISO)
telmisartan  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
tetrathiomolybdate(2-)  (EXP)
thallium  (ISO)
thapsigargin  (EXP)
theophylline  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
thiostrepton  (EXP)
thiram  (EXP)
thymol  (ISO)
thymol sulfate(1-)  (ISO)
thymoquinone  (ISO)
thyroxine  (ISO)
titanium atom  (ISO)
titanium dioxide  (EXP,ISO)
trans-caffeic acid  (EXP,ISO)
trans-ferulic acid  (ISO)
trans-isoeugenol  (EXP)
triadimefon  (ISO)
tributyl phosphate  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
tris(2-butoxyethyl) phosphate  (ISO)
tris(picolinato)chromium  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
tunicamycin  (ISO)
tyloxapol  (ISO)
usnic acid  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vanillin  (EXP)
vitamin E  (ISO)
water  (ISO)
withaferin A  (EXP)
yohimbine  (ISO)
zearalenone  (ISO)
zinc acetate  (EXP,ISO)
zinc atom  (ISO)
zinc dichloride  (EXP,ISO)
zinc oxide  (ISO)
zinc pyrithione  (EXP)
zinc sulfate  (ISO)
zinc(0)  (ISO)
zingerone  (ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Protective effect of Satureja montana extract on cyclophosphamide-induced testicular injury in rats. Abd El Tawab AM, etal., Chem Biol Interact. 2014 Nov 11;224C:196-205. doi: 10.1016/j.cbi.2014.11.001.
2. Protective effect of aminoguanidine against oxidative stress and bladder injury in cyclophosphamide-induced hemorrhagic cystitis in rat. Abraham P, etal., Cell Biochem Funct. 2009 Jan;27(1):56-62. doi: 10.1002/cbf.1534.
3. The expression of key oxidative stress-handling genes in different brain regions in Alzheimer's disease. Aksenov MY, etal., J Mol Neurosci. 1998 Oct;11(2):151-64.
4. Beneficial effects of Chrysin against Methotrexate-induced hepatotoxicity via attenuation of oxidative stress and apoptosis. Ali N, etal., Mol Cell Biochem. 2014 Jan;385(1-2):215-23. doi: 10.1007/s11010-013-1830-4. Epub 2013 Oct 24.
5. Hyperbaric oxygen preconditioning protects rats against CNS oxygen toxicity. Arieli Y, etal., Respir Physiol Neurobiol. 2014 Jun 15;197:29-35. doi: 10.1016/j.resp.2014.03.006. Epub 2014 Mar 24.
6. Hepatoprotective effect of satureja khuzestanica essential oil and vitamin e in experimental hyperthyroid rats: evidence for role of antioxidant effect. Assaei R, etal., Iran J Med Sci. 2014 Sep;39(5):459-66.
7. Reactive oxygen species and phosphatidylserine externalization in murine sickle red cells. Banerjee T and Kuypers FA, Br J Haematol. 2004 Feb;124(3):391-402.
8. The effect of a minor constituent of essential oil from Citrus aurantium: the role of beta-myrcene in preventing peptic ulcer disease. Bonamin F, etal., Chem Biol Interact. 2014 Apr 5;212:11-9. doi: 10.1016/j.cbi.2014.01.009. Epub 2014 Jan 27.
9. Antioxidant capacity responsible for a hypocholesterolemia is independent of dietary cholesterol in adult rats fed rice protein. Cai J, etal., Gene. 2014 Jan 1;533(1):57-66. doi: 10.1016/j.gene.2013.09.124. Epub 2013 Oct 10.
10. Cardiac energy metabolism and oxidative stress biomarkers in diabetic rat treated with resveratrol. Carolo dos Santos K, etal., PLoS One. 2014 Jul 22;9(7):e102775. doi: 10.1371/journal.pone.0102775. eCollection 2014.
11. Lipid peroxidation and antioxidant enzyme activities in vascular and Alzheimer dementias. Casado A, etal., Neurochem Res. 2008 Mar;33(3):450-8. Epub 2007 Aug 25.
12. Non-haem iron-mediated oxidative stress in haemoglobin E beta-thalassaemia. Chakraborty I, etal., Ann Acad Med Singapore. 2010 Jan;39(1):13-6.
13. Reversal of experimental myoglobinuric acute renal failure in rats by quercetin, a bioflavonoid. Chander V, etal., Pharmacology. 2005 Jan;73(1):49-56. Epub 2004 Sep 27.
14. Inadequate cytoplasmic antioxidant enzymes response contributes to the oxidative stress in human hypertension. Chaves FJ, etal., Am J Hypertens. 2007 Jan;20(1):62-9.
15. Low glutathione reductase and peroxidase activity in age-related macular degeneration. Cohen SM, etal., Br J Ophthalmol. 1994 Oct;78(10):791-4.
16. Parameters of antioxidative defense in type 2 diabetic patients with cardiovascular complications. Colak E, etal., Ann Med. 2005;37(8):613-20.
17. Nerve growth factor and striatal glutathione metabolism in a rat model of Huntington's disease. Cruz-Aguado R, etal., Restor Neurol Neurosci. 2000;17(4):217-221.
18. Blood and lens lipid peroxidation and antioxidant status in normal individuals, senile and diabetic cataractous patients. Donma O, etal., Curr Eye Res. 2002 Jul;25(1):9-16.
19. Antioxidant effect of selenium on lipid peroxidation, hyperlipidemia and biochemical parameters in rats exposed to diazinon. El-Demerdash FM and Nasr HM, J Trace Elem Med Biol. 2014 Jan;28(1):89-93. doi: 10.1016/j.jtemb.2013.10.001. Epub 2013 Oct 16.
20. Glutathione, glutathione reductase and glutathione S-transferase activities in erythrocytes and lymphocytes in chronic renal disease. El-Rashidy FH, etal., Res Commun Chem Pathol Pharmacol. 1984 Jun;44(3):423-30.
21. Ameliorative effect of acetyl-L-carnitine and/or nifedipine against selenite-induced cataractogenesis in young albino rats. Farghaly LM, etal., Eur J Pharmacol. 2014 Apr 15;729:1-9. doi: 10.1016/j.ejphar.2014.02.005. Epub 2014 Feb 14.
22. Rapid neutrophil accumulation and protein oxidation in irradiated rat lungs. Fliss H and Menard M, J Appl Physiol. 1994 Dec;77(6):2727-33.
23. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
24. Beneficial effect of xylo-oligosaccharides and fructo-oligosaccharides in streptozotocin-induced diabetic rats. Gobinath D, etal., Br J Nutr. 2010 Jul;104(1):40-7. doi: 10.1017/S0007114510000243. Epub 2010 Feb 26.
25. Long-term treatment with a beta-blocker timolol attenuates renal-damage in diabetic rats via enhancing kidney antioxidant-defense system. Gokturk H, etal., Mol Cell Biochem. 2014 Oct;395(1-2):177-86. doi: 10.1007/s11010-014-2123-2. Epub 2014 Jun 20.
26. Alterations in trace elements and oxidative stress in uremic patients with dementia. Guo CH, etal., Biol Trace Elem Res. 2009 Oct;131(1):13-24. doi: 10.1007/s12011-009-8342-9. Epub 2009 Feb 26.
27. Catechins attenuate eccentric exercise-induced inflammation and loss of force production in muscle in senescence-accelerated mice. Haramizu S, etal., J Appl Physiol (1985). 2011 Dec;111(6):1654-63. doi: 10.1152/japplphysiol.01434.2010. Epub 2011 Sep 8.
28. Selenium prevents cognitive decline and oxidative damage in rat model of streptozotocin-induced experimental dementia of Alzheimer's type. Ishrat T, etal., Brain Res. 2009 Jul 24;1281:117-27. doi: 10.1016/j.brainres.2009.04.010. Epub 2009 Apr 15.
29. Expression of Glutathione Peroxidase and Glutathione Reductase and Level of Free Radical Processes under Toxic Hepatitis in Rats. Iskusnykh IY, etal., J Toxicol. 2013;2013:870628. doi: 10.1155/2013/870628. Epub 2013 Mar 11.
30. Oleuropein offers cardioprotection in rats with acute myocardial infarction. Janahmadi Z, etal., Cardiovasc Toxicol. 2015 Jan;15(1):61-8. doi: 10.1007/s12012-014-9271-1.
31. S-allyl cysteine attenuates oxidative stress associated cognitive impairment and neurodegeneration in mouse model of streptozotocin-induced experimental dementia of Alzheimer's type. Javed H, etal., Brain Res. 2011 May 10;1389:133-42. doi: 10.1016/j.brainres.2011.02.072. Epub 2011 Mar 1.
32. Neuroprotective effects of curcumin on 6-hydroxydopamine-induced Parkinsonism in rats: behavioral, neurochemical and immunohistochemical studies. Khuwaja G, etal., Brain Res. 2011 Jan 12;1368:254-63. Epub 2010 Oct 15.
33. Antioxidant Enzymes and Lipid Peroxidation in Type 2 Diabetes Mellitus Patients with and without Nephropathy. Kumawat M, etal., N Am J Med Sci. 2013 Mar;5(3):213-9. doi: 10.4103/1947-2714.109193.
34. The activity of glucose-6-phosphate dehydroxygenase and glutathione enzymes in red blood cells in patients with haemoblastoses. Kumerova A, etal., Mater Med Pol. 1995 Jan-Mar;27(1):7-9.
35. Amyloid Abeta1-40 preconditions non-apoptotic signals in vivo and protects fetal rat brain from intrauterine ischemic stress. Kuperstein F, etal., J Neurochem. 2004 Nov;91(4):965-74.
36. Ligustrazine attenuates elevated levels of indoxyl sulfate, kidney injury molecule-1 and clusterin in rats exposed to cadmium. Lan Z, etal., Food Chem Toxicol. 2014 Jan;63:62-8. doi: 10.1016/j.fct.2013.10.038. Epub 2013 Nov 5.
37. Effect of diallyl disulfide on acute gastric mucosal damage induced by alcohol in rats. Lee IC, etal., Hum Exp Toxicol. 2015 Mar;34(3):227-39. doi: 10.1177/0960327114537095. Epub 2014 Jun 27.
38. Protective effect of tea polyphenols on renal ischemia/reperfusion injury via suppressing the activation of TLR4/NF-kappaB p65 signal pathway. Li YW, etal., Gene. 2014 May 25;542(1):46-51. doi: 10.1016/j.gene.2014.03.021. Epub 2014 Mar 12.
39. Heart protective effects and mechanism of quercetin preconditioning on anti-myocardial ischemia reperfusion (IR) injuries in rats. Liu H, etal., Gene. 2014 Jul 15;545(1):149-55. doi: 10.1016/j.gene.2014.04.043. Epub 2014 Apr 24.
40. Familial deficiency of glutathione reductase in human blood cells. Loos H, etal., Blood. 1976 Jul;48(1):53-62.
41. Acetaminophen increases the risk of arsenic-mediated development of hepatic damage in rats by enhancing redox-signaling mechanism. Majhi CR, etal., Environ Toxicol. 2014 Feb;29(2):187-98. doi: 10.1002/tox.20785. Epub 2011 Nov 25.
42. Antioxidant S-allylcysteine prevents gentamicin-induced oxidative stress and renal damage. Maldonado PD, etal., Free Radic Biol Med. 2003 Aug 1;35(3):317-24.
43. Renal oxidative vulnerability due to changes in mitochondrial-glutathione and energy homeostasis in a rat model of calcium oxalate urolithiasis. Meimaridou E, etal., Am J Physiol Renal Physiol. 2006 Oct;291(4):F731-40. Epub 2006 May 2.
44. Partial glutathione reductase deficiency as a cause of diverse clinical manifestations in a family with unstable hemoglobin (Hemoglobin Hana, beta63(E7) His-Asn). Mojzikova R, etal., Blood Cells Mol Dis. 2010 Oct 15;45(3):219-22. doi: 10.1016/j.bcmd.2010.07.003. Epub 2010 Aug 9.
45. Oxidative stress and total antioxidant status in acute leukemia at diagnosis and post remission induction phase. Naz A, etal., Pak J Pharm Sci. 2013 Nov;26(6):1123-30.
46. Lutein derived fragments exhibit higher antioxidant and anti-inflammatory properties than lutein in lipopolysaccharide induced inflammation in rats. Nidhi B, etal., Food Funct. 2015 Feb;6(2):450-60. doi: 10.1039/c4fo00606b.
47. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
48. Lipid peroxidation and antioxidant enzymes in synovial fluid of patients with primary and secondary osteoarthritis of the knee joint. Ostalowska A, etal., Osteoarthritis Cartilage. 2006 Feb;14(2):139-45. Epub 2005 Nov 10.
49. The investigation of plasma glucose-6-phosphate dehydrogenase, 6-phoshogluconate dehydrogenase, glutathione reductase in premenauposal patients with iron deficiency anemia. Ozcicek F, etal., Pak J Med Sci. 2014 Jul;30(4):809-913.
50. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
51. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
52. Altered antioxidant capacity in human renal cell carcinoma: role of glutathione associated enzymes. Pljesa-Ercegovac M, etal., Urol Oncol. 2008 Mar-Apr;26(2):175-81. doi: 10.1016/j.urolonc.2007.02.007. Epub 2007 Nov 26.
53. Cyclophosphamide-induced nephrotoxicity, genotoxicity, and damage in kidney genomic DNA of Swiss albino mice: the protective effect of Ellagic acid. Rehman MU, etal., Mol Cell Biochem. 2012 Jun;365(1-2):119-27. doi: 10.1007/s11010-012-1250-x.
54. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
55. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
56. Diquat induces renal proximal tubule injury in glutathione reductase-deficient mice. Rogers LK, etal., Toxicol Appl Pharmacol. 2006 Dec 15;217(3):289-98. Epub 2006 Sep 26.
57. Evaluation of oxidative stress biomarkers in patients with chronic renal failure: a case control study. Romeu M, etal., BMC Res Notes. 2010 Jan 25;3:20. doi: 10.1186/1756-0500-3-20.
58. Effects of Carissa opaca fruits extracts on oxidative pulmonary damages and fibrosis in rats. Sahreen S, etal., BMC Complement Altern Med. 2014 Jan 30;14:40. doi: 10.1186/1472-6882-14-40.
59. Antioxidant status in patients with osteoporosis: a controlled study. Sendur OF, etal., Joint Bone Spine. 2009 Oct;76(5):514-8. doi: 10.1016/j.jbspin.2009.02.005. Epub 2009 May 21.
60. Effect of sterol esters on lipid composition and antioxidant status of erythrocyte membrane of hypercholesterolemic rats. Sengupta A and Ghosh M, J Oleo Sci. 2014;63(5):439-47.
61. Diet-relevant phytochemical intake affects the cardiac AhR and nrf2 transcriptome and reduces heart failure in hypertensive rats. Seymour EM, etal., J Nutr Biochem. 2013 Sep;24(9):1580-6. doi: 10.1016/j.jnutbio.2013.01.008. Epub 2013 Mar 22.
62. Protein levels and activity of some antioxidant enzymes in hippocampus of subjects with amnestic mild cognitive impairment. Sultana R, etal., Neurochem Res. 2008 Dec;33(12):2540-6. doi: 10.1007/s11064-008-9593-0. Epub 2008 Mar 6.
63. Comparative effect of pioglitazone, quercetin and hydroxy citric acid on the status of lipid peroxidation and antioxidants in experimental non-alcoholic steatohepatitis. Surapaneni KM and Jainu M, J Physiol Pharmacol. 2014 Feb;65(1):67-74.
64. Changes in oxidative stress parameters and neurodegeneration markers in the brain of the senescence-accelerated mice SAMP-8. Sureda FX, etal., Exp Gerontol. 2006 Apr;41(4):360-7. Epub 2006 Mar 20.
65. Exercise prevents sleep deprivation-associated anxiety-like behavior in rats: potential role of oxidative stress mechanisms. Vollert C, etal., Behav Brain Res. 2011 Oct 31;224(2):233-40. doi: 10.1016/j.bbr.2011.05.010. Epub 2011 May 19.
66. The effect of oxidative stress on human red cells glutathione peroxidase, glutathione reductase level, and prevalence of anemia among diabetics. Waggiallah H and Alzohairy M, N Am J Med Sci. 2011 Jul;3(7):344-7. doi: 10.4297/najms.2011.3344.
67. Subchronic arsenic exposure through drinking water alters vascular redox homeostasis and affects physical health in rats. Waghe P, etal., Biol Trace Elem Res. 2014 Dec;162(1-3):234-41. doi: 10.1007/s12011-014-0116-3. Epub 2014 Sep 11.
68. Bilateral ovarian ischemia/reperfusion injury and treatment options in rats with an induced model of diabetes. Yapca OE, etal., Iran J Basic Med Sci. 2014;17(4):294-302.
69. Effects of glycerol-induced acute renal failure on tissue glutathione and glutathione-dependent enzymes in the rat. Yeung JH Methods Find Exp Clin Pharmacol. 1991 Jan-Feb;13(1):23-8.
70. Decreased antioxidant activity in hypercholesterolemic children with nephrotic syndrome. Zachwieja J, etal., Med Sci Monit. 2003 Jun;9(6):CR235-9.
Additional References at PubMed
PMID:302667   PMID:923580   PMID:2185014   PMID:2306116   PMID:2379581   PMID:3656429   PMID:6822532   PMID:7060551   PMID:7334521   PMID:7663973   PMID:8626496   PMID:8889548  
PMID:9151953   PMID:9174360   PMID:9546215   PMID:10708558   PMID:11204445   PMID:11273669   PMID:11710935   PMID:12095224   PMID:12447480   PMID:12477932   PMID:12516882   PMID:12533953  
PMID:12630007   PMID:12826156   PMID:12838767   PMID:12838770   PMID:12901426   PMID:14637279   PMID:14744259   PMID:15149466   PMID:15489334   PMID:15592455   PMID:15978628   PMID:16009940  
PMID:16169070   PMID:16341674   PMID:16421571   PMID:16424062   PMID:16868544   PMID:17185460   PMID:17206382   PMID:17601350   PMID:18341267   PMID:18638483   PMID:18977241   PMID:19056867  
PMID:19124506   PMID:19322201   PMID:19377255   PMID:19527700   PMID:19560448   PMID:19806191   PMID:19896490   PMID:19913121   PMID:20200426   PMID:20379614   PMID:20485444   PMID:20586645  
PMID:20628086   PMID:20628807   PMID:20877624   PMID:21417634   PMID:21873635   PMID:21988832   PMID:22089180   PMID:22863883   PMID:22939629   PMID:22944692   PMID:23376485   PMID:23533145  
PMID:23637325   PMID:23770363   PMID:25645953   PMID:25921289   PMID:25963833   PMID:26316444   PMID:26344197   PMID:26419038   PMID:28515276   PMID:28675297   PMID:28693341   PMID:29053956  
PMID:29105080   PMID:30097533   PMID:30865227   PMID:30948266   PMID:31091453   PMID:31343991   PMID:31478661   PMID:31530934   PMID:31536960   PMID:32344865   PMID:32694731   PMID:32698014  
PMID:32807901   PMID:33545068   PMID:33916271   PMID:33957083   PMID:34090318   PMID:34107852   PMID:34349018   PMID:34800366   PMID:35256949   PMID:35361806   PMID:35446349   PMID:35546148  
PMID:35562734   PMID:35575683   PMID:35696571   PMID:35831314   PMID:36114006   PMID:36180891   PMID:36215168   PMID:37059091   PMID:37827155   PMID:38113892   PMID:38496616   PMID:38580884  


Genomics

Comparative Map Data
GSR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38830,678,066 - 30,727,846 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl830,678,066 - 30,727,846 (-)EnsemblGRCh38hg38GRCh38
GRCh37830,535,583 - 30,585,363 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36830,655,977 - 30,704,985 (-)NCBINCBI36Build 36hg18NCBI36
Build 34830,655,976 - 30,704,985NCBI
Celera829,494,968 - 29,543,967 (-)NCBICelera
Cytogenetic Map8p12NCBI
HuRef829,080,197 - 29,130,251 (-)NCBIHuRef
CHM1_1830,737,741 - 30,787,638 (-)NCBICHM1_1
T2T-CHM13v2.0830,957,535 - 31,007,300 (-)NCBIT2T-CHM13v2.0
Gsr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39834,143,266 - 34,188,190 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl834,142,551 - 34,188,191 (+)EnsemblGRCm39 Ensembl
GRCm38833,653,238 - 33,698,162 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl833,652,523 - 33,698,163 (+)EnsemblGRCm38mm10GRCm38
MGSCv37834,763,710 - 34,808,634 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36835,119,173 - 35,164,097 (+)NCBIMGSCv36mm8
MGSCv36832,569,577 - 32,614,657 (+)NCBIMGSCv36mm8
Celera836,289,529 - 36,337,457 (+)NCBICelera
Cytogenetic Map8A4NCBI
cM Map820.69NCBI
Gsr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81665,185,574 - 65,228,742 (-)NCBIGRCr8
mRatBN7.21658,482,209 - 58,525,256 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1658,482,505 - 58,525,661 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1663,820,015 - 63,862,474 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01667,233,692 - 67,276,139 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01662,454,254 - 62,496,705 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01662,197,617 - 62,239,987 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1662,197,617 - 62,241,361 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01661,859,601 - 61,901,971 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41662,255,562 - 62,298,458 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11662,255,636 - 62,298,530 (-)NCBI
Celera1656,518,556 - 56,560,956 (-)NCBICelera
Cytogenetic Map16q12.3NCBI
Gsr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554637,131,364 - 7,153,583 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554637,130,459 - 7,153,631 (-)NCBIChiLan1.0ChiLan1.0
GSR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2749,249,871 - 49,299,566 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1824,965,772 - 25,015,466 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0829,990,543 - 30,040,157 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1827,180,294 - 27,229,557 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl827,180,300 - 27,229,557 (-)Ensemblpanpan1.1panPan2
GSR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11633,633,949 - 33,680,411 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1633,633,968 - 33,679,752 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1634,093,319 - 34,142,803 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01635,660,075 - 35,709,366 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1635,659,426 - 35,709,550 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11633,758,663 - 33,808,143 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01634,330,564 - 34,379,803 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01634,449,530 - 34,498,911 (+)NCBIUU_Cfam_GSD_1.0
Gsr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494356,784,705 - 56,832,808 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936792531,756 - 579,166 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936792531,076 - 579,083 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GSR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1554,382,567 - 54,433,984 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11554,382,564 - 54,433,989 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21561,755,038 - 61,806,793 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GSR
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1828,778,713 - 28,851,907 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605213,248,221 - 13,308,724 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gsr
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478013,440,235 - 13,496,535 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478013,440,269 - 13,497,435 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GSR
134 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p12-q11.21(chr8:29719897-48521849)x3 copy number gain See cases [RCV000050995] Chr8:29719897..48521849 [GRCh38]
Chr8:29577413..49434409 [GRCh37]
Chr8:29633332..49596962 [NCBI36]
Chr8:8p12-q11.21
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
NM_000637.5(GSR):c.698G>A (p.Arg233His) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV001286060]|not provided [RCV001871682] Chr8:30696477 [GRCh38]
Chr8:30553994 [GRCh37]
Chr8:8p12
uncertain significance
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p12-11.21(chr8:29362097-40231708)x1 copy number loss See cases [RCV000136878] Chr8:29362097..40231708 [GRCh38]
Chr8:29219614..40089227 [GRCh37]
Chr8:29275533..40208384 [NCBI36]
Chr8:8p12-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p12(chr8:30368765-36421541)x3 copy number gain See cases [RCV000139926] Chr8:30368765..36421541 [GRCh38]
Chr8:30226281..36279059 [GRCh37]
Chr8:30345823..36398222 [NCBI36]
Chr8:8p12
uncertain significance
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
NM_000637.5(GSR):c.41C>A (p.Pro14Gln) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV001283438]|not provided [RCV000756214] Chr8:30727795 [GRCh38]
Chr8:30585312 [GRCh37]
Chr8:8p12
benign|likely benign
NM_000637.5(GSR):c.1349T>G (p.Met450Arg) single nucleotide variant not provided [RCV001507730] Chr8:30680974 [GRCh38]
Chr8:30538491 [GRCh37]
Chr8:8p12
uncertain significance
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p12(chr8:30565641-30704649)x1 copy number loss See cases [RCV000446856] Chr8:30565641..30704649 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000637.5(GSR):c.334-5T>A single nucleotide variant GSR-related disorder [RCV003922698]|not provided [RCV000430217] Chr8:30709907 [GRCh38]
Chr8:30567424 [GRCh37]
Chr8:8p12
benign|likely benign
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
NM_000637.5(GSR):c.334-5del deletion not provided [RCV001696220]|not specified [RCV000508404] Chr8:30709907 [GRCh38]
Chr8:30567424 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.696-10C>T single nucleotide variant GSR-related disorder [RCV003983100]|Hemolytic anemia due to glutathione reductase deficiency [RCV000506625]|not provided [RCV001672818] Chr8:30696489 [GRCh38]
Chr8:30554006 [GRCh37]
Chr8:8p12
benign
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p12(chr8:30335124-33770070)x1 copy number loss not provided [RCV000683024] Chr8:30335124..33770070 [GRCh37]
Chr8:8p12
pathogenic
NM_000637.5(GSR):c.334-6_334-5del deletion not specified [RCV001000288] Chr8:30709907..30709908 [GRCh38]
Chr8:30567424..30567425 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.457C>T (p.Arg153Cys) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV001000380]|not provided [RCV001664598] Chr8:30708107 [GRCh38]
Chr8:30708107..30708108 [GRCh38]
Chr8:30565624 [GRCh37]
Chr8:30565624..30565625 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.878C>G (p.Ser293Cys) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003132135]|not provided [RCV003480898]|not specified [RCV001000674] Chr8:30692973 [GRCh38]
Chr8:30550490 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p12(chr8:29103983-35728509)x1 copy number loss not provided [RCV000846377] Chr8:29103983..35728509 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000637.5(GSR):c.306+124C>T single nucleotide variant not provided [RCV001707149] Chr8:30727406 [GRCh38]
Chr8:30584923 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.307-47G>A single nucleotide variant not provided [RCV001645754] Chr8:30712135 [GRCh38]
Chr8:30569652 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.1420-146G>T single nucleotide variant not provided [RCV001681960] Chr8:30679815 [GRCh38]
Chr8:30537332 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.307-221G>A single nucleotide variant not provided [RCV001534836] Chr8:30712309 [GRCh38]
Chr8:30569826 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.1042-199G>A single nucleotide variant not provided [RCV001667794] Chr8:30684398 [GRCh38]
Chr8:30541915 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.989T>C (p.Leu330Pro) single nucleotide variant not provided [RCV000756215] Chr8:30689213 [GRCh38]
Chr8:30546730 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_000637.5(GSR):c.866T>C (p.Val289Ala) single nucleotide variant not provided [RCV000756216] Chr8:30692985 [GRCh38]
Chr8:30550502 [GRCh37]
Chr8:8p12
conflicting interpretations of pathogenicity|uncertain significance
NM_000637.5(GSR):c.595G>A (p.Ala199Thr) single nucleotide variant not provided [RCV000905802] Chr8:30703138 [GRCh38]
Chr8:30560655 [GRCh37]
Chr8:8p12
benign|conflicting interpretations of pathogenicity
NM_000637.5(GSR):c.1500G>A (p.Thr500=) single nucleotide variant GSR-related disorder [RCV003943024]|Hemolytic anemia due to glutathione reductase deficiency [RCV003758947]|not provided [RCV000950736] Chr8:30679589 [GRCh38]
Chr8:30537106 [GRCh37]
Chr8:8p12
benign|likely benign
NM_000637.5(GSR):c.1317T>C (p.Asn439=) single nucleotide variant not provided [RCV000900242] Chr8:30681006 [GRCh38]
Chr8:30538523 [GRCh37]
Chr8:8p12
benign|likely benign
NM_000637.5(GSR):c.1285+7A>G single nucleotide variant not provided [RCV000979640] Chr8:30681923 [GRCh38]
Chr8:30539440 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.882+6G>A single nucleotide variant not provided [RCV000979249] Chr8:30692963 [GRCh38]
Chr8:30550480 [GRCh37]
Chr8:8p12
benign|conflicting interpretations of pathogenicity
NM_000637.5(GSR):c.1116A>C (p.Ala372=) single nucleotide variant not provided [RCV000922208] Chr8:30684125 [GRCh38]
Chr8:30541642 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.1356C>T (p.His452=) single nucleotide variant not provided [RCV000922207] Chr8:30680967 [GRCh38]
Chr8:30538484 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.497A>G (p.His166Arg) single nucleotide variant not specified [RCV004304263] Chr8:30703236 [GRCh38]
Chr8:30560753 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1286-229_*499del deletion Hemolytic anemia due to glutathione reductase deficiency [RCV000856711] Chr8:30679021..30681266 [GRCh38]
Chr8:30536538..30538783 [GRCh37]
Chr8:8p12
pathogenic
NM_000637.5(GSR):c.993G>A (p.Trp331Ter) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV000856712] Chr8:30689209 [GRCh38]
Chr8:30546726 [GRCh37]
Chr8:8p12
pathogenic
NM_000637.5(GSR):c.1121G>C (p.Gly374Ala) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV000856713] Chr8:30684120 [GRCh38]
Chr8:30541637 [GRCh37]
Chr8:8p12
pathogenic
NM_000637.5(GSR):c.1062G>A (p.Lys354=) single nucleotide variant not provided [RCV000916303] Chr8:30684179 [GRCh38]
Chr8:30541696 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.954A>T (p.Pro318=) single nucleotide variant GSR-related disorder [RCV003936271]|not provided [RCV000999014] Chr8:30689248 [GRCh38]
Chr8:30546765 [GRCh37]
Chr8:8p12
benign|likely benign
NM_000637.5(GSR):c.1261A>G (p.Ile421Val) single nucleotide variant not specified [RCV001000680] Chr8:30681954 [GRCh38]
Chr8:30539471 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.149C>A (p.Pro50Gln) single nucleotide variant not specified [RCV001002560] Chr8:30727687 [GRCh38]
Chr8:30585204 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000637.5(GSR):c.694G>A (p.Gly232Ser) single nucleotide variant GSR-related disorder [RCV003936272]|not provided [RCV000999015]|not specified [RCV001000546] Chr8:30700082 [GRCh38]
Chr8:30557599 [GRCh37]
Chr8:8p12
benign|likely benign|uncertain significance
NM_000637.5(GSR):c.423-287G>A single nucleotide variant not provided [RCV001671069] Chr8:30708428 [GRCh38]
Chr8:30565945 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.1041+42A>G single nucleotide variant not provided [RCV001660828] Chr8:30689119 [GRCh38]
Chr8:30546636 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.1042-219C>T single nucleotide variant not provided [RCV001669958] Chr8:30684418 [GRCh38]
Chr8:30541935 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.306+103G>C single nucleotide variant not provided [RCV001672030] Chr8:30727427 [GRCh38]
Chr8:30584944 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.43A>G (p.Ser15Gly) single nucleotide variant GSR-related disorder [RCV003926024]|Hemolytic anemia due to glutathione reductase deficiency [RCV001000356]|not provided [RCV000955389] Chr8:30727793 [GRCh38]
Chr8:30585310 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.531G>T (p.Thr177=) single nucleotide variant GSR-related disorder [RCV003910713]|Hemolytic anemia due to glutathione reductase deficiency [RCV003117642]|not provided [RCV000898827] Chr8:30703202 [GRCh38]
Chr8:30560719 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.1069A>G (p.Ile357Val) single nucleotide variant GSR-related disorder [RCV003933272]|Hemolytic anemia due to glutathione reductase deficiency [RCV001804104]|not provided [RCV000948802] Chr8:30684172 [GRCh38]
Chr8:30541689 [GRCh37]
Chr8:8p12
benign|likely benign|uncertain significance
NM_000637.5(GSR):c.423-236C>T single nucleotide variant not provided [RCV001669532] Chr8:30708377 [GRCh38]
Chr8:30565894 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.883-130C>G single nucleotide variant not provided [RCV001709918] Chr8:30689449 [GRCh38]
Chr8:30546966 [GRCh37]
Chr8:8p12
benign
NC_000008.11:g.30728221G>T single nucleotide variant not provided [RCV001687600] Chr8:30728221 [GRCh38]
Chr8:30585738 [GRCh37]
Chr8:8p12
benign
NC_000008.11:g.30728105T>G single nucleotide variant not provided [RCV001688448] Chr8:30728105 [GRCh38]
Chr8:30585622 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.1153+320dup duplication not provided [RCV001616102] Chr8:30683754..30683755 [GRCh38]
Chr8:30541271..30541272 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.306+165G>A single nucleotide variant not provided [RCV001642004] Chr8:30727365 [GRCh38]
Chr8:30584882 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.1154-45A>C single nucleotide variant not provided [RCV001686841] Chr8:30682106 [GRCh38]
Chr8:30539623 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.493-130G>A single nucleotide variant not provided [RCV001676506] Chr8:30703370 [GRCh38]
Chr8:30560887 [GRCh37]
Chr8:8p12
benign
NC_000008.11:g.30728153G>C single nucleotide variant not provided [RCV001678414] Chr8:30728153 [GRCh38]
Chr8:30585670 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.1565G>A (p.Arg522His) single nucleotide variant not specified [RCV001000673] Chr8:30679524 [GRCh38]
Chr8:30537041 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.261T>C (p.Gly87=) single nucleotide variant GSR-related disorder [RCV003973019]|Hemolytic anemia due to glutathione reductase deficiency [RCV001001593]|not provided [RCV001713060] Chr8:30727575 [GRCh38]
Chr8:30585092 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.697C>T (p.Arg233Cys) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003130098]|not provided [RCV002261250]|not specified [RCV001002360] Chr8:30696478 [GRCh38]
Chr8:30553995 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1420-39_1420-38del deletion not provided [RCV001708586] Chr8:30679707..30679708 [GRCh38]
Chr8:30537224..30537225 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.307-222C>T single nucleotide variant not provided [RCV001713564] Chr8:30712310 [GRCh38]
Chr8:30569827 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.423-226T>C single nucleotide variant not provided [RCV001616494] Chr8:30708367 [GRCh38]
Chr8:30565884 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.189C>T (p.Ala63=) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV001001594]|not provided [RCV001683718] Chr8:30727647 [GRCh38]
Chr8:30585164 [GRCh37]
Chr8:8p12
benign
GRCh37/hg19 8p12(chr8:30308545-30873238)x3 copy number gain not provided [RCV001259471] Chr8:30308545..30873238 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_000637.5(GSR):c.1334C>T (p.Thr445Met) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV001286640] Chr8:30680989 [GRCh38]
Chr8:30538506 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.512G>T (p.Arg171Leu) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV001285992] Chr8:30703221 [GRCh38]
Chr8:30560738 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.334-4dup duplication GSR-related disorder [RCV003931344]|Hemolytic anemia due to glutathione reductase deficiency [RCV001807859]|not provided [RCV002541457] Chr8:30709905..30709906 [GRCh38]
Chr8:30567422..30567423 [GRCh37]
Chr8:8p12
benign|likely benign
NC_000008.11:g.30673639_30673644del deletion not provided [RCV001355930] Chr8:30673638..30673643 [GRCh38]
Chr8:30531155..30531160 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.908C>T (p.Ser303Leu) single nucleotide variant not provided [RCV001507731] Chr8:30689294 [GRCh38]
Chr8:30546811 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.679C>G (p.Leu227Val) single nucleotide variant not provided [RCV001508599] Chr8:30700097 [GRCh38]
Chr8:30557614 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.4(GSR):c.-100T>C single nucleotide variant not provided [RCV001508601] Chr8:30727935 [GRCh38]
Chr8:30585452 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1420-38del deletion not provided [RCV001681532] Chr8:30679707 [GRCh38]
Chr8:30537224 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.439C>G (p.Arg147Gly) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003492257]|not provided [RCV001508600]|not specified [RCV004037892] Chr8:30708125 [GRCh38]
Chr8:30565642 [GRCh37]
Chr8:8p12
uncertain significance
NC_000008.11:g.30728098C>T single nucleotide variant not provided [RCV001617472] Chr8:30728098 [GRCh38]
Chr8:30585615 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.334-109G>A single nucleotide variant not provided [RCV001682496] Chr8:30710011 [GRCh38]
Chr8:30567528 [GRCh37]
Chr8:8p12
benign
NC_000008.11:g.30728184dup duplication not provided [RCV001708583] Chr8:30728183..30728184 [GRCh38]
Chr8:30585700..30585701 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.1153+320_1153+321dup duplication not provided [RCV001610095] Chr8:30683754..30683755 [GRCh38]
Chr8:30541271..30541272 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.242G>A (p.Arg81His) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV001802723]|not specified [RCV004040900] Chr8:30727594 [GRCh38]
Chr8:30585111 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.859G>A (p.Val287Met) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV001803648]|not provided [RCV003718426] Chr8:30692992 [GRCh38]
Chr8:30550509 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.648C>G (p.Ser216Arg) single nucleotide variant not provided [RCV001943012] Chr8:30700128 [GRCh38]
Chr8:30557645 [GRCh37]
Chr8:8p12
uncertain significance
NC_000008.10:g.(?_30436438)_(31030618_?)dup duplication not provided [RCV001975849] Chr8:30436438..31030618 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000637.5(GSR):c.1486A>C (p.Lys496Gln) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003131087] Chr8:30679603 [GRCh38]
Chr8:30537120 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.395C>T (p.Pro132Leu) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003131084] Chr8:30709841 [GRCh38]
Chr8:30567358 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.307G>A (p.Val103Met) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV002227355] Chr8:30712088 [GRCh38]
Chr8:30569605 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1285+25A>T single nucleotide variant not provided [RCV002261844] Chr8:30681905 [GRCh38]
Chr8:30539422 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.493-18T>G single nucleotide variant not provided [RCV002261845] Chr8:30703258 [GRCh38]
Chr8:30560775 [GRCh37]
Chr8:8p12
conflicting interpretations of pathogenicity|uncertain significance
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
NM_000637.5(GSR):c.1490T>C (p.Met497Thr) single nucleotide variant not provided [RCV002261843] Chr8:30679599 [GRCh38]
Chr8:30537116 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.4(GSR):c.-67C>T single nucleotide variant not provided [RCV002261847] Chr8:30727902 [GRCh38]
Chr8:30585419 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1023C>G (p.Asp341Glu) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003131083] Chr8:30689179 [GRCh38]
Chr8:30546696 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.372T>C (p.His124=) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003131085] Chr8:30709864 [GRCh38]
Chr8:30567381 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p12(chr8:30459775-30564837)x1 copy number loss not provided [RCV002473550] Chr8:30459775..30564837 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 copy number loss not provided [RCV002472596] Chr8:26808969..38346383 [GRCh37]
Chr8:8p21.2-11.22
pathogenic
NM_000637.5(GSR):c.1081G>A (p.Glu361Lys) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003131086] Chr8:30684160 [GRCh38]
Chr8:30541677 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1080C>T (p.Asp360=) single nucleotide variant not provided [RCV002967529] Chr8:30684161 [GRCh38]
Chr8:30541678 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.17G>A (p.Arg6Gln) single nucleotide variant not specified [RCV004151408] Chr8:30727819 [GRCh38]
Chr8:30585336 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.830A>C (p.Asn277Thr) single nucleotide variant not specified [RCV004177558] Chr8:30693021 [GRCh38]
Chr8:30550538 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p12(chr8:30564838-30618334)x1 copy number loss not provided [RCV002475827] Chr8:30564838..30618334 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.115G>A (p.Ala39Thr) single nucleotide variant not specified [RCV004144765] Chr8:30727721 [GRCh38]
Chr8:30585238 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.531G>A (p.Thr177=) single nucleotide variant not provided [RCV002923180] Chr8:30703202 [GRCh38]
Chr8:30560719 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.855T>C (p.Ala285=) single nucleotide variant not provided [RCV002658714] Chr8:30692996 [GRCh38]
Chr8:30550513 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.67T>G (p.Phe23Val) single nucleotide variant not specified [RCV004122268] Chr8:30727769 [GRCh38]
Chr8:30585286 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.331A>C (p.Lys111Gln) single nucleotide variant not provided [RCV003481415]|not specified [RCV004130559] Chr8:30712064 [GRCh38]
Chr8:30569581 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.691C>G (p.Pro231Ala) single nucleotide variant not provided [RCV002962315]|not specified [RCV004068210] Chr8:30700085 [GRCh38]
Chr8:30557602 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.796-3C>G single nucleotide variant not provided [RCV003082691] Chr8:30693058 [GRCh38]
Chr8:30550575 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.458G>A (p.Arg153His) single nucleotide variant not specified [RCV004241605] Chr8:30708106 [GRCh38]
Chr8:30565623 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.488C>T (p.Thr163Ile) single nucleotide variant not specified [RCV004154912] Chr8:30708076 [GRCh38]
Chr8:30565593 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.334-6T>A single nucleotide variant GSR-related disorder [RCV003943682]|not provided [RCV002982413] Chr8:30709908 [GRCh38]
Chr8:30567425 [GRCh37]
Chr8:8p12
benign|likely benign
NM_000637.5(GSR):c.1281G>A (p.Thr427=) single nucleotide variant GSR-related disorder [RCV003943784]|not provided [RCV003084738] Chr8:30681934 [GRCh38]
Chr8:30539451 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.755C>A (p.Ala252Asp) single nucleotide variant not specified [RCV004228412] Chr8:30696420 [GRCh38]
Chr8:30553937 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1098C>T (p.Asn366=) single nucleotide variant GSR-related disorder [RCV003916641]|not provided [RCV002941930] Chr8:30684143 [GRCh38]
Chr8:30541660 [GRCh37]
Chr8:8p12
benign|likely benign
NM_000637.5(GSR):c.439C>T (p.Arg147Trp) single nucleotide variant GSR-related disorder [RCV003395628]|not specified [RCV004079871] Chr8:30708125 [GRCh38]
Chr8:30565642 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.59C>T (p.Ala20Val) single nucleotide variant not provided [RCV002922407] Chr8:30727777 [GRCh38]
Chr8:30585294 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.703G>A (p.Val235Ile) single nucleotide variant not provided [RCV002601939] Chr8:30696472 [GRCh38]
Chr8:30553989 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.99C>T (p.Pro33=) single nucleotide variant not provided [RCV002577944] Chr8:30727737 [GRCh38]
Chr8:30585254 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.836C>T (p.Thr279Met) single nucleotide variant not specified [RCV004223711] Chr8:30693015 [GRCh38]
Chr8:30550532 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.492+9G>A single nucleotide variant not provided [RCV002601084] Chr8:30708063 [GRCh38]
Chr8:30565580 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.428T>C (p.Ile143Thr) single nucleotide variant not specified [RCV004188715] Chr8:30708136 [GRCh38]
Chr8:30565653 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.624T>A (p.His208Gln) single nucleotide variant not specified [RCV004096838] Chr8:30703109 [GRCh38]
Chr8:30560626 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.1419+20A>G single nucleotide variant not provided [RCV002590012] Chr8:30680884 [GRCh38]
Chr8:30538401 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.1294A>G (p.Ile432Val) single nucleotide variant not provided [RCV002610177] Chr8:30681029 [GRCh38]
Chr8:30538546 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.998T>C (p.Ile333Thr) single nucleotide variant not specified [RCV004253069] Chr8:30689204 [GRCh38]
Chr8:30546721 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.83T>C (p.Leu28Pro) single nucleotide variant not specified [RCV004269169] Chr8:30727753 [GRCh38]
Chr8:30585270 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.709G>A (p.Val237Ile) single nucleotide variant not specified [RCV004265747] Chr8:30696466 [GRCh38]
Chr8:30553983 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1196A>C (p.Glu399Ala) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003135480] Chr8:30682019 [GRCh38]
Chr8:30539536 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.13C>T (p.Pro5Ser) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003135481] Chr8:30727823 [GRCh38]
Chr8:30585340 [GRCh37]
Chr8:8p12
likely benign|uncertain significance
NM_000637.5(GSR):c.1525G>A (p.Ala509Thr) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003135482] Chr8:30679564 [GRCh38]
Chr8:30537081 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1256C>T (p.Pro419Leu) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003135483] Chr8:30681959 [GRCh38]
Chr8:30539476 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.781A>G (p.Ile261Val) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003135485] Chr8:30696394 [GRCh38]
Chr8:30553911 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1171C>T (p.Arg391Ter) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003135486] Chr8:30682044 [GRCh38]
Chr8:30539561 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.815C>T (p.Ser272Leu) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003135487] Chr8:30693036 [GRCh38]
Chr8:30550553 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.19G>T (p.Ala7Ser) single nucleotide variant not specified [RCV004264291] Chr8:30727817 [GRCh38]
Chr8:30585334 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.971C>T (p.Pro324Leu) single nucleotide variant not specified [RCV004265325] Chr8:30689231 [GRCh38]
Chr8:30546748 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1106G>A (p.Gly369Asp) single nucleotide variant not specified [RCV004314305] Chr8:30684135 [GRCh38]
Chr8:30541652 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.731T>A (p.Val244Glu) single nucleotide variant not specified [RCV004357237] Chr8:30696444 [GRCh38]
Chr8:30553961 [GRCh37]
Chr8:8p12
uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
NM_000637.5(GSR):c.943G>A (p.Gly315Ser) single nucleotide variant not provided [RCV003481872] Chr8:30689259 [GRCh38]
Chr8:30546776 [GRCh37]
Chr8:8p12
conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
NM_000637.5(GSR):c.67T>C (p.Phe23Leu) single nucleotide variant not provided [RCV003481873] Chr8:30727769 [GRCh38]
Chr8:30585286 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.94G>T (p.Glu32Ter) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003492877]|not provided [RCV003436841] Chr8:30727742 [GRCh38]
Chr8:30585259 [GRCh37]
Chr8:8p12
conflicting interpretations of pathogenicity|uncertain significance
NM_000637.5(GSR):c.639C>T (p.Pro213=) single nucleotide variant not provided [RCV003436840] Chr8:30703094 [GRCh38]
Chr8:30560611 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.306+13G>A single nucleotide variant not provided [RCV003831365] Chr8:30727517 [GRCh38]
Chr8:30585034 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.1054G>A (p.Asp352Asn) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003493011] Chr8:30684187 [GRCh38]
Chr8:30541704 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.702C>T (p.Ser234=) single nucleotide variant not provided [RCV003573905] Chr8:30696473 [GRCh38]
Chr8:30553990 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.433G>A (p.Glu145Lys) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003493012] Chr8:30708131 [GRCh38]
Chr8:30565648 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1060A>G (p.Lys354Glu) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003493010] Chr8:30684181 [GRCh38]
Chr8:30541698 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.476A>T (p.Gln159Leu) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003493014]|not specified [RCV004364883] Chr8:30708088 [GRCh38]
Chr8:30565605 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.422+3_422+6del deletion not provided [RCV003713746] Chr8:30709808..30709811 [GRCh38]
Chr8:30567325..30567328 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1358C>T (p.Ala453Val) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003493013] Chr8:30680965 [GRCh38]
Chr8:30538482 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.172G>T (p.Ala58Ser) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003493015] Chr8:30727664 [GRCh38]
Chr8:30585181 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.227_253dup (p.Ala84_Glu85insGlyLeuAlaSerAlaArgArgAlaAla) duplication Hemolytic anemia due to glutathione reductase deficiency [RCV003761186] Chr8:30727582..30727583 [GRCh38]
Chr8:30585099..30585100 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1074C>T (p.Ile358=) single nucleotide variant not provided [RCV003835276] Chr8:30684167 [GRCh38]
Chr8:30541684 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.852C>T (p.Asn284=) single nucleotide variant not provided [RCV003733288] Chr8:30692999 [GRCh38]
Chr8:30550516 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.1267A>G (p.Thr423Ala) single nucleotide variant not provided [RCV003819611] Chr8:30681948 [GRCh38]
Chr8:30539465 [GRCh37]
Chr8:8p12
uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3
pathogenic
GRCh37/hg19 8p12(chr8:30398461-30957178)x1 copy number loss not specified [RCV003986734] Chr8:30398461..30957178 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.267G>A (p.Arg89=) single nucleotide variant not provided [RCV003552148] Chr8:30727569 [GRCh38]
Chr8:30585086 [GRCh37]
Chr8:8p12
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_000637.5(GSR):c.954A>C (p.Pro318=) single nucleotide variant not provided [RCV003819031] Chr8:30689248 [GRCh38]
Chr8:30546765 [GRCh37]
Chr8:8p12
likely benign
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1
pathogenic
NM_000637.5(GSR):c.250G>A (p.Ala84Thr) single nucleotide variant not provided [RCV003726953]|not specified [RCV004374203] Chr8:30727586 [GRCh38]
Chr8:30585103 [GRCh37]
Chr8:8p12
likely benign|uncertain significance
NM_000637.5(GSR):c.306+14G>C single nucleotide variant not provided [RCV003553498] Chr8:30727516 [GRCh38]
Chr8:30585033 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.612C>T (p.Pro204=) single nucleotide variant GSR-related disorder [RCV003927028] Chr8:30703121 [GRCh38]
Chr8:30560638 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.1041+10C>A single nucleotide variant GSR-related disorder [RCV003981224] Chr8:30689151 [GRCh38]
Chr8:30546668 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.334-5dup duplication GSR-related disorder [RCV003977404] Chr8:30709906..30709907 [GRCh38]
Chr8:30567423..30567424 [GRCh37]
Chr8:8p12
benign
NM_000637.5(GSR):c.334-8_334-5del deletion GSR-related disorder [RCV003961727] Chr8:30709907..30709910 [GRCh38]
Chr8:30567424..30567427 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.334-7_334-5del deletion GSR-related disorder [RCV003919449] Chr8:30709907..30709909 [GRCh38]
Chr8:30567424..30567426 [GRCh37]
Chr8:8p12
likely benign
NM_000637.5(GSR):c.342del (p.Met113_Trp114insTer) deletion Hemolytic anemia due to glutathione reductase deficiency [RCV003990644] Chr8:30709894 [GRCh38]
Chr8:30567411 [GRCh37]
Chr8:8p12
likely pathogenic
NM_000637.5(GSR):c.640G>A (p.Gly214Ser) single nucleotide variant Hemolytic anemia due to glutathione reductase deficiency [RCV003990930] Chr8:30703093 [GRCh38]
Chr8:30560610 [GRCh37]
Chr8:8p12
likely pathogenic
NM_000637.5(GSR):c.616A>C (p.Thr206Pro) single nucleotide variant not specified [RCV004396327] Chr8:30703117 [GRCh38]
Chr8:30560634 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1393A>G (p.Met465Val) single nucleotide variant not specified [RCV004396323] Chr8:30680930 [GRCh38]
Chr8:30538447 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.47G>T (p.Trp16Leu) single nucleotide variant not specified [RCV004396326] Chr8:30727789 [GRCh38]
Chr8:30585306 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.878C>T (p.Ser293Phe) single nucleotide variant not specified [RCV004396328] Chr8:30692973 [GRCh38]
Chr8:30550490 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1493G>T (p.Gly498Val) single nucleotide variant not specified [RCV004396324] Chr8:30679596 [GRCh38]
Chr8:30537113 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.23T>A (p.Leu8Gln) single nucleotide variant not specified [RCV004396325] Chr8:30727813 [GRCh38]
Chr8:30585330 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.50G>A (p.Arg17Gln) single nucleotide variant not specified [RCV004635005] Chr8:30727786 [GRCh38]
Chr8:30585303 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.1507G>C (p.Asp503His) single nucleotide variant not specified [RCV004624070] Chr8:30679582 [GRCh38]
Chr8:30537099 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.962C>T (p.Thr321Ile) single nucleotide variant not specified [RCV004635007] Chr8:30689240 [GRCh38]
Chr8:30546757 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.290A>G (p.Lys97Arg) single nucleotide variant not specified [RCV004635006] Chr8:30727546 [GRCh38]
Chr8:30585063 [GRCh37]
Chr8:8p12
uncertain significance
NM_000637.5(GSR):c.598A>C (p.Thr200Pro) single nucleotide variant not specified [RCV004635004] Chr8:30703135 [GRCh38]
Chr8:30560652 [GRCh37]
Chr8:8p12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1975
Count of miRNA genes:741
Interacting mature miRNAs:842
Transcripts:ENST00000221130, ENST00000414019, ENST00000520888, ENST00000521479, ENST00000523295, ENST00000537535, ENST00000541648, ENST00000546342
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
406987574GWAS636550_Hlevel of glutathione reductase, mitochondrial in blood serum QTL GWAS636550 (human)4e-86level of glutathione reductase, mitochondrial in blood serum83070810730708108Human
406939606GWAS588582_Hprotein measurement QTL GWAS588582 (human)1e-26protein measurement83069591330695914Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human
407250616GWAS899592_HHematochezia, response to radiation QTL GWAS899592 (human)0.0000001Hematochezia, response to radiation83070171830701719Human

Markers in Region
A008S12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,556,652 - 30,556,814UniSTSGRCh37
Build 36830,676,194 - 30,676,356RGDNCBI36
Celera829,515,176 - 29,515,338RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,101,407 - 29,101,569UniSTS
GeneMap99-GB4 RH Map8118.5UniSTS
NCBI RH Map8414.6UniSTS
G67468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,546,641 - 30,546,900UniSTSGRCh37
Build 36830,666,183 - 30,666,442RGDNCBI36
Celera829,505,163 - 29,505,422RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,091,252 - 29,091,511UniSTS
D8S2172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,536,734 - 30,536,874UniSTSGRCh37
Build 36830,656,276 - 30,656,416RGDNCBI36
Celera829,495,267 - 29,495,407RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,081,350 - 29,081,490UniSTS
D8S2178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,584,447 - 30,584,624UniSTSGRCh37
Build 36830,703,989 - 30,704,166RGDNCBI36
Celera829,542,971 - 29,543,148RGD
HuRef829,129,212 - 29,129,389UniSTS
D8S2206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,581,221 - 30,581,466UniSTSGRCh37
Build 36830,700,763 - 30,701,008RGDNCBI36
Celera829,539,752 - 29,539,987RGD
HuRef829,125,993 - 29,126,228UniSTS
D8S2240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,536,793 - 30,536,896UniSTSGRCh37
Build 36830,656,335 - 30,656,438RGDNCBI36
Celera829,495,326 - 29,495,429RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,081,409 - 29,081,512UniSTS
G20694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,555,539 - 30,555,674UniSTSGRCh37
Build 36830,675,081 - 30,675,216RGDNCBI36
Celera829,514,063 - 29,514,198RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,100,292 - 29,100,427UniSTS
A006C09  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,555,539 - 30,555,674UniSTSGRCh37
Build 36830,675,081 - 30,675,216RGDNCBI36
Celera829,514,063 - 29,514,198RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,100,292 - 29,100,427UniSTS
GeneMap99-GB4 RH Map8118.6UniSTS
WI-21247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,555,502 - 30,555,795UniSTSGRCh37
Build 36830,675,044 - 30,675,337RGDNCBI36
Celera829,514,026 - 29,514,319RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,100,255 - 29,100,548UniSTS
GeneMap99-GB4 RH Map8118.5UniSTS
Whitehead-RH Map8122.2UniSTS
NCBI RH Map8414.6UniSTS
WI-13416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,535,589 - 30,535,717UniSTSGRCh37
Build 36830,655,131 - 30,655,259RGDNCBI36
Celera829,494,125 - 29,494,253RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,080,208 - 29,080,336UniSTS
GeneMap99-GB4 RH Map8118.5UniSTS
Whitehead-RH Map8122.2UniSTS
WI-21746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37830,536,174 - 30,536,277UniSTSGRCh37
Build 36830,655,716 - 30,655,819RGDNCBI36
Celera829,494,707 - 29,494,810RGD
Cytogenetic Map8p21.1UniSTS
HuRef829,080,789 - 29,080,892UniSTS
GeneMap99-GB4 RH Map8117.53UniSTS
Whitehead-RH Map8122.2UniSTS
NCBI RH Map8411.3UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
RH71277  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8p21.1UniSTS
GeneMap99-GB4 RH Map8118.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2251 4971 1726 2350 5 624 1950 465 2269 7300 6468 53 3733 1 851 1742 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB519179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB519180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB519181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF228703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF228704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY338490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM148117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM478942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM838919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA944703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB988964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF576503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000221130   ⟹   ENSP00000221130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl830,678,066 - 30,727,846 (-)Ensembl
Ensembl Acc Id: ENST00000521479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl830,696,405 - 30,727,010 (-)Ensembl
Ensembl Acc Id: ENST00000523295   ⟹   ENSP00000431044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl830,681,931 - 30,727,667 (-)Ensembl
Ensembl Acc Id: ENST00000537535   ⟹   ENSP00000438845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl830,679,520 - 30,727,835 (-)Ensembl
Ensembl Acc Id: ENST00000541648   ⟹   ENSP00000444559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl830,679,520 - 30,727,835 (-)Ensembl
Ensembl Acc Id: ENST00000546342   ⟹   ENSP00000445516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl830,679,520 - 30,727,835 (-)Ensembl
Ensembl Acc Id: ENST00000643525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl830,679,266 - 30,726,945 (-)Ensembl
Ensembl Acc Id: ENST00000643653   ⟹   ENSP00000494854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl830,678,369 - 30,727,701 (-)Ensembl
RefSeq Acc Id: NM_000637   ⟹   NP_000628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,678,066 - 30,727,846 (-)NCBI
GRCh37830,535,578 - 30,585,486 (-)ENTREZGENE
Build 36830,655,977 - 30,704,985 (-)NCBI Archive
HuRef829,080,197 - 29,130,251 (-)ENTREZGENE
CHM1_1830,737,741 - 30,787,638 (-)NCBI
T2T-CHM13v2.0830,957,535 - 31,007,300 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195102   ⟹   NP_001182031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,678,066 - 30,727,846 (-)NCBI
GRCh37830,535,578 - 30,585,486 (-)ENTREZGENE
HuRef829,080,197 - 29,130,251 (-)ENTREZGENE
CHM1_1830,737,741 - 30,787,638 (-)NCBI
T2T-CHM13v2.0830,957,535 - 31,007,300 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195103   ⟹   NP_001182032
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,678,066 - 30,727,846 (-)NCBI
GRCh37830,535,578 - 30,585,486 (-)ENTREZGENE
HuRef829,080,197 - 29,130,251 (-)ENTREZGENE
CHM1_1830,737,741 - 30,787,638 (-)NCBI
T2T-CHM13v2.0830,957,535 - 31,007,300 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001195104   ⟹   NP_001182033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,678,066 - 30,727,846 (-)NCBI
GRCh37830,535,578 - 30,585,486 (-)ENTREZGENE
HuRef829,080,197 - 29,130,251 (-)ENTREZGENE
CHM1_1830,737,741 - 30,787,638 (-)NCBI
T2T-CHM13v2.0830,957,535 - 31,007,300 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421727   ⟹   XP_047277683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,678,066 - 30,727,021 (-)NCBI
RefSeq Acc Id: XM_047421728   ⟹   XP_047277684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,678,066 - 30,708,970 (-)NCBI
RefSeq Acc Id: XM_054360370   ⟹   XP_054216345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0830,957,535 - 30,988,428 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000628 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182031 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182032 (Get FASTA)   NCBI Sequence Viewer  
  NP_001182033 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277683 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277684 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216345 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF37572 (Get FASTA)   NCBI Sequence Viewer  
  AAF37573 (Get FASTA)   NCBI Sequence Viewer  
  AAF37574 (Get FASTA)   NCBI Sequence Viewer  
  AAH69244 (Get FASTA)   NCBI Sequence Viewer  
  AAP88037 (Get FASTA)   NCBI Sequence Viewer  
  ACI46013 (Get FASTA)   NCBI Sequence Viewer  
  ACV87206 (Get FASTA)   NCBI Sequence Viewer  
  AUI41042 (Get FASTA)   NCBI Sequence Viewer  
  BAI43437 (Get FASTA)   NCBI Sequence Viewer  
  BAI43438 (Get FASTA)   NCBI Sequence Viewer  
  BAI43439 (Get FASTA)   NCBI Sequence Viewer  
  CAA33744 (Get FASTA)   NCBI Sequence Viewer  
  CAA38367 (Get FASTA)   NCBI Sequence Viewer  
  EAW63442 (Get FASTA)   NCBI Sequence Viewer  
  EAW63443 (Get FASTA)   NCBI Sequence Viewer  
  EAW63444 (Get FASTA)   NCBI Sequence Viewer  
  EAW63445 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000221130
  ENSP00000221130.5
  ENSP00000431044.1
  ENSP00000438845
  ENSP00000438845.1
  ENSP00000444559
  ENSP00000444559.1
  ENSP00000445516
  ENSP00000445516.1
  ENSP00000494854.1
GenBank Protein P00390 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001182033   ⟸   NM_001195104
- Peptide Label: isoform 4
- UniProtKB: P00390 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182031   ⟸   NM_001195102
- Peptide Label: isoform 2
- UniProtKB: P00390 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001182032   ⟸   NM_001195103
- Peptide Label: isoform 3
- UniProtKB: P00390 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000628   ⟸   NM_000637
- Peptide Label: isoform 1 precursor
- UniProtKB: Q7Z5C9 (UniProtKB/Swiss-Prot),   D3DSV3 (UniProtKB/Swiss-Prot),   C8KIM0 (UniProtKB/Swiss-Prot),   C8KIL9 (UniProtKB/Swiss-Prot),   C8KIL8 (UniProtKB/Swiss-Prot),   Q9NP63 (UniProtKB/Swiss-Prot),   P00390 (UniProtKB/Swiss-Prot),   V9HW90 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000444559   ⟸   ENST00000541648
Ensembl Acc Id: ENSP00000445516   ⟸   ENST00000546342
Ensembl Acc Id: ENSP00000431044   ⟸   ENST00000523295
Ensembl Acc Id: ENSP00000438845   ⟸   ENST00000537535
Ensembl Acc Id: ENSP00000221130   ⟸   ENST00000221130
Ensembl Acc Id: ENSP00000494854   ⟸   ENST00000643653
RefSeq Acc Id: XP_047277683   ⟸   XM_047421727
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047277684   ⟸   XM_047421728
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216345   ⟸   XM_054360370
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P00390-F1-model_v2 AlphaFold P00390 1-522 view protein structure

Promoters
RGD ID:6806790
Promoter ID:HG_KWN:61053
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000221130
Position:
Human AssemblyChrPosition (strand)Source
Build 36830,704,636 - 30,705,136 (-)MPROMDB
RGD ID:7213039
Promoter ID:EPDNEW_H12265
Type:initiation region
Name:GSR_1
Description:glutathione-disulfide reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12266  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,727,819 - 30,727,879EPDNEW
RGD ID:7213041
Promoter ID:EPDNEW_H12266
Type:initiation region
Name:GSR_2
Description:glutathione-disulfide reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12265  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38830,727,951 - 30,728,011EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4623 AgrOrtholog
COSMIC GSR COSMIC
Ensembl Genes ENSG00000104687 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000221130 ENTREZGENE
  ENST00000221130.11 UniProtKB/Swiss-Prot
  ENST00000523295.5 UniProtKB/TrEMBL
  ENST00000537535 ENTREZGENE
  ENST00000537535.5 UniProtKB/Swiss-Prot
  ENST00000541648 ENTREZGENE
  ENST00000541648.5 UniProtKB/Swiss-Prot
  ENST00000546342 ENTREZGENE
  ENST00000546342.5 UniProtKB/Swiss-Prot
  ENST00000643653.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.390.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104687 GTEx
HGNC ID HGNC:4623 ENTREZGENE
Human Proteome Map GSR Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-linked_Rdtase_dimer_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutathione_Rdtase_euk/bac UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GSHR/TRXR-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyr_nuc-diS_OxRdtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyr_nucl-diS_OxRdtase_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyr_OxRdtase_I_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2936 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2936 ENTREZGENE
OMIM 138300 OMIM
PANTHER GLUTATHIONE REDUCTASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR42737 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pyr_redox_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pyr_redox_dim UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29014 PharmGKB
PIRSF Mercury_reductase_MerA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS FADPNR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNDRDTASEI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PYRIDINE_REDOX_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2I6B3H4_HUMAN UniProtKB/TrEMBL
  A0A2R8YF59_HUMAN UniProtKB/TrEMBL
  C8KIL8 ENTREZGENE
  C8KIL9 ENTREZGENE
  C8KIM0 ENTREZGENE
  D3DSV3 ENTREZGENE
  GSHR_HUMAN UniProtKB/Swiss-Prot
  H0YC68_HUMAN UniProtKB/TrEMBL
  P00390 ENTREZGENE
  Q7Z5C9 ENTREZGENE
  Q9NP63 ENTREZGENE
  V9HW90 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary C8KIL8 UniProtKB/Swiss-Prot
  C8KIL9 UniProtKB/Swiss-Prot
  C8KIM0 UniProtKB/Swiss-Prot
  D3DSV3 UniProtKB/Swiss-Prot
  Q7Z5C9 UniProtKB/Swiss-Prot
  Q9NP63 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-05 GSR  glutathione-disulfide reductase    glutathione reductase  Symbol and/or name change 5135510 APPROVED