TRAF3 (TNF receptor associated factor 3) - Rat Genome Database

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Gene: TRAF3 (TNF receptor associated factor 3) Homo sapiens
Analyze
Symbol: TRAF3
Name: TNF receptor associated factor 3
RGD ID: 1312182
HGNC Page HGNC
Description: Enables enzyme binding activity; identical protein binding activity; and tumor necrosis factor receptor binding activity. Involved in negative regulation of NF-kappaB transcription factor activity; regulation of proteolysis; and tumor necrosis factor-mediated signaling pathway. Predicted to be located in cytosol. Predicted to be part of CD40 receptor complex. Predicted to be active in cytoplasmic side of plasma membrane. Implicated in brain disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAP-1; CAP1; CD40 associated protein 1; CD40 binding protein; CD40 receptor associated factor 1; CD40 receptor-associated factor 1; CD40-binding protein; CD40bp; CRAF1; IIAE5; LAP1; LMP1 associated protein; LMP1-associated protein 1; RING-type E3 ubiquitin transferase TRAF3; RNF118; TNF receptor-associated factor 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl14102,777,449 - 102,911,500 (+)EnsemblGRCh38hg38GRCh38
GRCh3814102,777,449 - 102,911,500 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3714103,243,786 - 103,377,837 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614102,313,569 - 102,442,381 (+)NCBINCBI36hg18NCBI36
Celera1483,297,948 - 83,426,752 (+)NCBI
Cytogenetic Map14q32.32NCBI
HuRef1483,420,470 - 83,553,138 (+)NCBIHuRef
CHM1_114103,181,586 - 103,315,592 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-taxifolin  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
alpha-pinene  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
cannabidiol  (ISO)
capsaicin  (EXP)
cisplatin  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
D-glucose  (ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
diethylstilbestrol  (EXP)
dimethylarsinic acid  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
furan  (ISO)
Fusarenone X  (ISO)
glucose  (ISO)
hydroxychloroquine  (EXP,ISO)
ibrutinib  (EXP)
isoflurane  (ISO)
lipopolysaccharide  (ISO)
metformin  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
N,N-diethyl-m-toluamide  (ISO)
nickel atom  (EXP)
o-anisidine  (EXP)
ozone  (EXP)
p-menthan-3-ol  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP)
paraquat  (EXP,ISO)
pentobarbital  (ISO)
permethrin  (ISO)
propiconazole  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
tungsten  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
zoledronic acid  (EXP)

References

Additional References at PubMed
PMID:7527023   PMID:7530216   PMID:7533327   PMID:7859281   PMID:8565075   PMID:8612133   PMID:8626767   PMID:8662842   PMID:8663299   PMID:8710854   PMID:9122217   PMID:9151858  
PMID:9162022   PMID:9168896   PMID:9275204   PMID:9384571   PMID:9388227   PMID:9418902   PMID:9464265   PMID:9488716   PMID:9550380   PMID:9582383   PMID:9718306   PMID:9774460  
PMID:9774977   PMID:9794406   PMID:9852070   PMID:9990007   PMID:10025951   PMID:10037686   PMID:10199393   PMID:10207006   PMID:10352240   PMID:10514511   PMID:10523862   PMID:10557073  
PMID:10635328   PMID:10644711   PMID:10764746   PMID:10781837   PMID:10791955   PMID:10799510   PMID:10809768   PMID:10837247   PMID:10862698   PMID:10903733   PMID:10984535   PMID:11035039  
PMID:11098060   PMID:11261798   PMID:11278268   PMID:11279055   PMID:11384837   PMID:11435475   PMID:11562359   PMID:11607847   PMID:11728344   PMID:11950878   PMID:12005438   PMID:12089335  
PMID:12136149   PMID:12169272   PMID:12220533   PMID:12270937   PMID:12471121   PMID:12477932   PMID:12529173   PMID:12571250   PMID:12637493   PMID:12860972   PMID:14517219   PMID:14572659  
PMID:14716302   PMID:14743216   PMID:14982987   PMID:15084608   PMID:15208311   PMID:15280356   PMID:15383523   PMID:15485634   PMID:15489334   PMID:15514968   PMID:15585864   PMID:15708970  
PMID:15941918   PMID:15944293   PMID:16009714   PMID:16260598   PMID:16280329   PMID:16306936   PMID:16311516   PMID:16429118   PMID:16582590   PMID:16858409   PMID:17544371   PMID:17586463  
PMID:17608743   PMID:17626074   PMID:17692805   PMID:17823124   PMID:17878343   PMID:17991829   PMID:18042799   PMID:18275617   PMID:18607851   PMID:18614628   PMID:19023125   PMID:19074885  
PMID:19419966   PMID:19667091   PMID:19693093   PMID:19893624   PMID:19913121   PMID:19937093   PMID:19954665   PMID:19996094   PMID:20008286   PMID:20056178   PMID:20080758   PMID:20097753  
PMID:20138174   PMID:20174559   PMID:20185819   PMID:20237496   PMID:20348096   PMID:20504251   PMID:20585848   PMID:20614026   PMID:20628086   PMID:20732415   PMID:20800603   PMID:20832341  
PMID:21041452   PMID:21041727   PMID:21084666   PMID:21200404   PMID:21228035   PMID:21660053   PMID:21703539   PMID:21813773   PMID:21864338   PMID:21873635   PMID:21885437   PMID:21903422  
PMID:21988832   PMID:22011580   PMID:22017431   PMID:22022264   PMID:22079989   PMID:22330071   PMID:22469134   PMID:22709905   PMID:22715070   PMID:22792062   PMID:22901541   PMID:22904686  
PMID:22908223   PMID:22945920   PMID:23153539   PMID:23303668   PMID:23308279   PMID:23329887   PMID:23333941   PMID:23381138   PMID:23524849   PMID:23543740   PMID:23545497   PMID:23612708  
PMID:23717208   PMID:23871208   PMID:23962979   PMID:23986588   PMID:24120361   PMID:24260396   PMID:24359561   PMID:24379373   PMID:24433987   PMID:24509444   PMID:24577058   PMID:24586659  
PMID:24622840   PMID:24671418   PMID:24739416   PMID:24763515   PMID:24810049   PMID:25051892   PMID:25241761   PMID:25246529   PMID:25468570   PMID:25723057   PMID:25996949   PMID:26034202  
PMID:26186194   PMID:26186972   PMID:26221961   PMID:26329582   PMID:26454171   PMID:26456228   PMID:26519536   PMID:26755589   PMID:26779844   PMID:26882989   PMID:26928339   PMID:27003818  
PMID:27026194   PMID:27026631   PMID:27135603   PMID:27154354   PMID:27208423   PMID:27213432   PMID:27307491   PMID:27348524   PMID:27387501   PMID:27493095   PMID:27507811   PMID:27716849  
PMID:27752131   PMID:27980081   PMID:28031331   PMID:28049150   PMID:28181356   PMID:28219902   PMID:28295222   PMID:28479387   PMID:28514442   PMID:28559278   PMID:28627449   PMID:28675297  
PMID:28747347   PMID:28786561   PMID:28934360   PMID:29125880   PMID:29138248   PMID:29146913   PMID:29507755   PMID:29661858   PMID:29693188   PMID:29765142   PMID:29875129   PMID:29903906  
PMID:29920243   PMID:29921694   PMID:30018345   PMID:30038267   PMID:30226589   PMID:30267576   PMID:30319624   PMID:30323820   PMID:30463990   PMID:30527812   PMID:30561431   PMID:30579117  
PMID:30687320   PMID:30692554   PMID:30770245   PMID:30833792   PMID:31016787   PMID:31034780   PMID:31139191   PMID:31322228   PMID:31386800   PMID:31390091   PMID:31404116   PMID:31501481  
PMID:31509299   PMID:31511519   PMID:31539122   PMID:31666375   PMID:31741433   PMID:31806368   PMID:31826940   PMID:31922244   PMID:31980649   PMID:32041822   PMID:32296183   PMID:32324863  
PMID:32366851   PMID:32445435   PMID:32511263   PMID:32514408   PMID:32647955   PMID:32656094   PMID:32779804   PMID:32802180   PMID:33198776   PMID:33372174   PMID:33411856   PMID:33692778  
PMID:33718275   PMID:34075889  


Genomics

Comparative Map Data
TRAF3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl14102,777,449 - 102,911,500 (+)EnsemblGRCh38hg38GRCh38
GRCh3814102,777,449 - 102,911,500 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3714103,243,786 - 103,377,837 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3614102,313,569 - 102,442,381 (+)NCBINCBI36hg18NCBI36
Celera1483,297,948 - 83,426,752 (+)NCBI
Cytogenetic Map14q32.32NCBI
HuRef1483,420,470 - 83,553,138 (+)NCBIHuRef
CHM1_114103,181,586 - 103,315,592 (+)NCBICHM1_1
Traf3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912111,132,755 - 111,233,589 (+)NCBIGRCm39mm39
GRCm39 Ensembl12111,132,804 - 111,233,587 (+)Ensembl
GRCm3812111,166,321 - 111,267,155 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12111,166,370 - 111,267,153 (+)EnsemblGRCm38mm10GRCm38
MGSCv3712112,404,759 - 112,505,359 (+)NCBIGRCm37mm9NCBIm37
MGSCv3612111,667,619 - 111,714,956 (+)NCBImm8
Celera12112,414,118 - 112,461,451 (+)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1260.94NCBI
Traf3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26130,199,696 - 130,307,168 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl6130,206,484 - 130,305,481 (+)Ensembl
Rnor_6.06135,610,698 - 135,720,247 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6135,610,743 - 135,718,564 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06144,694,225 - 144,804,047 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46135,925,375 - 136,027,270 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.16136,003,658 - 136,028,793 (+)NCBI
Celera6127,764,032 - 127,864,462 (+)NCBICelera
Cytogenetic Map6q32NCBI
Traf3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555381,954,152 - 2,013,367 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555381,954,152 - 2,013,367 (+)NCBIChiLan1.0ChiLan1.0
TRAF3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.114103,263,222 - 103,346,383 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl14103,263,440 - 103,340,670 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01483,392,689 - 83,530,974 (+)NCBIMhudiblu_PPA_v0panPan3
TRAF3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1870,739,389 - 70,794,448 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl870,739,417 - 70,790,645 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha870,191,158 - 70,304,538 (+)NCBI
ROS_Cfam_1.0870,955,838 - 71,067,673 (+)NCBI
UMICH_Zoey_3.1870,619,852 - 70,733,066 (+)NCBI
UNSW_CanFamBas_1.0870,684,215 - 70,797,522 (+)NCBI
UU_Cfam_GSD_1.0871,084,379 - 71,197,763 (+)NCBI
Traf3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086403,240,015 - 3,351,172 (-)NCBI
SpeTri2.0NW_004936835844,747 - 955,900 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRAF3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.27128,912,139 - 129,006,560 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRAF3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12480,735,234 - 80,872,104 (+)NCBI
ChlSab1.1 Ensembl2480,789,699 - 80,866,480 (+)Ensembl
Vero_WHO_p1.0NW_02366605367,926,789 - 68,064,185 (+)NCBI
Traf3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247341,728,353 - 1,820,345 (-)NCBI

Position Markers
D14S272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,278,036 - 103,278,179UniSTSGRCh37
GRCh3714103,277,944 - 103,278,175UniSTSGRCh37
Build 3614102,347,789 - 102,347,932RGDNCBI36
Celera1483,332,166 - 83,332,309RGD
Celera1483,332,074 - 83,332,305UniSTS
Cytogenetic Map14q32.32UniSTS
HuRef1483,453,767 - 83,453,990UniSTS
HuRef1483,453,859 - 83,453,994UniSTS
Marshfield Genetic Map14133.03RGD
Genethon Genetic Map14124.2UniSTS
TNG Radiation Hybrid Map1442159.0UniSTS
deCODE Assembly Map14121.7UniSTS
Stanford-G3 RH Map143936.0UniSTS
GeneMap99-GB4 RH Map14276.01UniSTS
Whitehead-RH Map14357.4UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map141126.0UniSTS
SGC34698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,326,591 - 103,326,723UniSTSGRCh37
Build 3614102,396,344 - 102,396,476RGDNCBI36
Celera1483,380,715 - 83,380,847RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,501,930 - 83,502,062UniSTS
GeneMap99-GB4 RH Map14276.01UniSTS
Whitehead-RH Map14357.4UniSTS
G15867  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,372,275 - 103,372,512UniSTSGRCh37
Build 3614102,442,028 - 102,442,265RGDNCBI36
Celera1483,426,399 - 83,426,636RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,547,576 - 83,547,813UniSTS
TRAF3_1584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,371,758 - 103,372,648UniSTSGRCh37
Build 3614102,441,511 - 102,442,401RGDNCBI36
Celera1483,425,882 - 83,426,772RGD
HuRef1483,547,059 - 83,547,949UniSTS
RH69049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,372,159 - 103,372,290UniSTSGRCh37
Build 3614102,441,912 - 102,442,043RGDNCBI36
Celera1483,426,283 - 83,426,414RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,547,460 - 83,547,591UniSTS
GeneMap99-GB4 RH Map14281.77UniSTS
NCBI RH Map141092.9UniSTS
G35442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,264,388 - 103,264,482UniSTSGRCh37
Build 3614102,334,141 - 102,334,235RGDNCBI36
Celera1483,318,518 - 83,318,612RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,441,024 - 83,441,118UniSTS
WI-13969  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,377,699 - 103,377,807UniSTSGRCh37
Build 3614102,447,452 - 102,447,560RGDNCBI36
Celera1483,431,823 - 83,431,931RGD
Cytogenetic Map14q32.32UniSTS
HuRef1483,553,000 - 83,553,108UniSTS
GeneMap99-GB4 RH Map14281.14UniSTS
Whitehead-RH Map14368.9UniSTS
NCBI RH Map141096.3UniSTS
G35638  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.32UniSTS
HuRef1483,432,471 - 83,432,664UniSTS
D14S272  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.32UniSTS
Marshfield Genetic Map14133.03UniSTS
Genethon Genetic Map14124.2UniSTS
deCODE Assembly Map14121.7UniSTS
GeneMap99-GB4 RH Map14276.01UniSTS
Whitehead-RH Map14357.4UniSTS
Whitehead-YAC Contig Map14 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3972
Count of miRNA genes:1266
Interacting mature miRNAs:1633
Transcripts:ENST00000347662, ENST00000351691, ENST00000392745, ENST00000539721, ENST00000558700, ENST00000558880, ENST00000559734, ENST00000560371, ENST00000560463
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 611 206 529 49 1081 44 278 190 1754 130 822 747 19 177 75 2
Low 1828 2757 1197 575 848 421 4078 1998 1980 289 638 866 156 1 1027 2713 4 2
Below cutoff 28 21 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF110908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ000015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX247977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U15637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U21092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000347662   ⟹   ENSP00000328003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,777,479 - 102,911,499 (+)Ensembl
RefSeq Acc Id: ENST00000351691   ⟹   ENSP00000332468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,830,354 - 102,906,255 (+)Ensembl
RefSeq Acc Id: ENST00000392745   ⟹   ENSP00000376500
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,777,449 - 102,911,500 (+)Ensembl
RefSeq Acc Id: ENST00000539721   ⟹   ENSP00000445998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,777,602 - 102,906,021 (+)Ensembl
RefSeq Acc Id: ENST00000558700   ⟹   ENSP00000453031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,871,927 - 102,897,307 (+)Ensembl
RefSeq Acc Id: ENST00000558880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,875,675 - 102,876,677 (+)Ensembl
RefSeq Acc Id: ENST00000559734   ⟹   ENSP00000453032
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,875,687 - 102,905,463 (+)Ensembl
RefSeq Acc Id: ENST00000560371   ⟹   ENSP00000454207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,777,476 - 102,911,500 (+)Ensembl
RefSeq Acc Id: ENST00000560463   ⟹   ENSP00000453623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl14102,777,618 - 102,871,953 (+)Ensembl
RefSeq Acc Id: NM_001199427   ⟹   NP_001186356
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,449 - 102,911,500 (+)NCBI
GRCh3714103,243,816 - 103,377,837 (+)ENTREZGENE
HuRef1483,420,470 - 83,553,138 (+)ENTREZGENE
CHM1_114103,181,586 - 103,315,592 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385142   ⟹   NP_001372071
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,449 - 102,911,500 (+)NCBI
RefSeq Acc Id: NM_001385143   ⟹   NP_001372072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,449 - 102,911,500 (+)NCBI
RefSeq Acc Id: NM_003300   ⟹   NP_003291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,449 - 102,911,500 (+)NCBI
GRCh3714103,243,816 - 103,377,837 (+)ENTREZGENE
Build 3614102,313,569 - 102,442,381 (+)NCBI Archive
HuRef1483,420,470 - 83,553,138 (+)ENTREZGENE
CHM1_114103,181,586 - 103,315,592 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145725   ⟹   NP_663777
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,449 - 102,911,500 (+)NCBI
GRCh3714103,243,816 - 103,377,837 (+)ENTREZGENE
Build 3614102,313,569 - 102,442,381 (+)NCBI Archive
HuRef1483,420,470 - 83,553,138 (+)ENTREZGENE
CHM1_114103,181,586 - 103,315,592 (+)NCBI
Sequence:
RefSeq Acc Id: NM_145726   ⟹   NP_663778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,449 - 102,911,500 (+)NCBI
GRCh3714103,243,816 - 103,377,837 (+)ENTREZGENE
Build 3614102,313,569 - 102,442,381 (+)NCBI Archive
HuRef1483,420,470 - 83,553,138 (+)ENTREZGENE
CHM1_114103,181,586 - 103,315,592 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537116   ⟹   XP_011535418
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,606 - 102,911,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537117   ⟹   XP_011535419
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,606 - 102,911,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537118   ⟹   XP_011535420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,606 - 102,911,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021617   ⟹   XP_016877106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,796,175 - 102,911,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021618   ⟹   XP_016877107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,826,484 - 102,911,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021619   ⟹   XP_016877108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,826,482 - 102,911,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017021620   ⟹   XP_016877109
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,606 - 102,895,272 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_663777   ⟸   NM_145725
- Peptide Label: isoform 1
- UniProtKB: Q13114 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_663778   ⟸   NM_145726
- Peptide Label: isoform 2
- UniProtKB: Q13114 (UniProtKB/Swiss-Prot),   A6NHG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003291   ⟸   NM_003300
- Peptide Label: isoform 1
- UniProtKB: Q13114 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186356   ⟸   NM_001199427
- Peptide Label: isoform 3
- UniProtKB: Q13114 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535420   ⟸   XM_011537118
- Peptide Label: isoform X5
- UniProtKB: Q13114 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535419   ⟸   XM_011537117
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011535418   ⟸   XM_011537116
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016877109   ⟸   XM_017021620
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016877106   ⟸   XM_017021617
- Peptide Label: isoform X1
- UniProtKB: Q13114 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016877108   ⟸   XM_017021619
- Peptide Label: isoform X2
- UniProtKB: A6NHG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877107   ⟸   XM_017021618
- Peptide Label: isoform X1
- UniProtKB: Q13114 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000328003   ⟸   ENST00000347662
RefSeq Acc Id: ENSP00000453031   ⟸   ENST00000558700
RefSeq Acc Id: ENSP00000453032   ⟸   ENST00000559734
RefSeq Acc Id: ENSP00000453623   ⟸   ENST00000560463
RefSeq Acc Id: ENSP00000454207   ⟸   ENST00000560371
RefSeq Acc Id: ENSP00000332468   ⟸   ENST00000351691
RefSeq Acc Id: ENSP00000376500   ⟸   ENST00000392745
RefSeq Acc Id: ENSP00000445998   ⟸   ENST00000539721
RefSeq Acc Id: NP_001372071   ⟸   NM_001385142
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001372072   ⟸   NM_001385143
- Peptide Label: isoform 5
Protein Domains
MATH   RING-type   TRAF-type

Promoters
RGD ID:6791963
Promoter ID:HG_KWN:20298
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003300,   NM_145725,   NM_145726
Position:
Human AssemblyChrPosition (strand)Source
Build 3614102,313,031 - 102,313,717 (+)MPROMDB
RGD ID:6815065
Promoter ID:HG_MRA:5015
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AF110908
Position:
Human AssemblyChrPosition (strand)Source
Build 3614102,443,651 - 102,444,902 (+)MPROMDB
RGD ID:7228681
Promoter ID:EPDNEW_H20086
Type:initiation region
Name:TRAF3_1
Description:TNF receptor associated factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20087  EPDNEW_H20088  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,449 - 102,777,509EPDNEW
RGD ID:7228683
Promoter ID:EPDNEW_H20087
Type:initiation region
Name:TRAF3_2
Description:TNF receptor associated factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20086  EPDNEW_H20088  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,777,605 - 102,777,665EPDNEW
RGD ID:7228685
Promoter ID:EPDNEW_H20088
Type:multiple initiation site
Name:TRAF3_3
Description:TNF receptor associated factor 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20086  EPDNEW_H20087  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814102,779,300 - 102,779,360EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_003300.4(TRAF3):c.352C>T (p.Arg118Trp) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000030822] Chr14:102875678 [GRCh38]
Chr14:103342015 [GRCh37]
Chr14:14q32.32
risk factor|likely benign
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 copy number loss See cases [RCV000051579] Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33
pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33
pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
NM_003300.4(TRAF3):c.189G>A (p.Pro63=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000544904] Chr14:102870390 [GRCh38]
Chr14:103336727 [GRCh37]
Chr14:14q32.32
benign
NM_145725.2(TRAF3):c.449G>A (p.Arg150His) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000650554]|not specified [RCV000238904] Chr14:102876404 [GRCh38]
Chr14:103342741 [GRCh37]
Chr14:14q32.32
benign|uncertain significance
NM_003300.4(TRAF3):c.1254C>T (p.Leu418=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000529994] Chr14:102905331 [GRCh38]
Chr14:103371668 [GRCh37]
Chr14:14q32.32
likely benign
GRCh37/hg19 14q32.32(chr14:103265633-103470073)x1 copy number loss See cases [RCV000449318] Chr14:103265633..103470073 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_003300.4(TRAF3):c.53C>G (p.Pro18Arg) single nucleotide variant Ependymoma [RCV000577847] Chr14:102870254 [GRCh38]
Chr14:103336591 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102801442-103358115)x3 copy number gain See cases [RCV000511027] Chr14:102801442..103358115 [GRCh37]
Chr14:14q32.31-32.32
uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_145725.3(TRAF3):c.245+10_245+21del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV000559433] Chr14:102870454..102870465 [GRCh38]
Chr14:103336791..103336802 [GRCh37]
Chr14:14q32.32
benign
NC_000014.9:g.(?_102870182)_(102930700_?)del deletion Imerslund-Gräsbeck syndrome [RCV000638880] Chr14:102870182..102930700 [GRCh38]
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32
pathogenic
NM_003300.4(TRAF3):c.727-5C>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001511226]|not provided [RCV000537856] Chr14:102891320 [GRCh38]
Chr14:103357657 [GRCh37]
Chr14:14q32.32
benign
NM_003300.4(TRAF3):c.1110C>T (p.Ser370=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000556361] Chr14:102903404 [GRCh38]
Chr14:103369741 [GRCh37]
Chr14:14q32.32
benign
NM_003300.4(TRAF3):c.856_857del (p.Lys286fs) deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV000650551] Chr14:102897297..102897298 [GRCh38]
Chr14:103363634..103363635 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_003300.4(TRAF3):c.1509C>T (p.Ser503=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000650552] Chr14:102905586 [GRCh38]
Chr14:103371923 [GRCh37]
Chr14:14q32.32
benign
NM_003300.4(TRAF3):c.165G>A (p.Lys55=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000650553] Chr14:102870366 [GRCh38]
Chr14:103336703 [GRCh37]
Chr14:14q32.32
likely benign
NM_003300.4(TRAF3):c.1323C>T (p.Tyr441=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000650555] Chr14:102905400 [GRCh38]
Chr14:103371737 [GRCh37]
Chr14:14q32.32
likely benign
NM_003300.4(TRAF3):c.727-7C>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001484683]|not provided [RCV000650556] Chr14:102891318 [GRCh38]
Chr14:103357655 [GRCh37]
Chr14:14q32.32
likely benign
NC_000014.8:g.(?_103336519)_(103397037_?)dup duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV000650557] Chr14:102870182..102930700 [GRCh38]
Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_003300.4(TRAF3):c.676G>T (p.Val226Phe) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000686367] Chr14:102889584 [GRCh38]
Chr14:103355921 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_003300.4(TRAF3):c.1200C>A (p.Ala400=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000694603] Chr14:102905277 [GRCh38]
Chr14:103371614 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_003300.4(TRAF3):c.199G>A (p.Glu67Lys) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000704905] Chr14:102870400 [GRCh38]
Chr14:103336737 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_003300.4(TRAF3):c.962G>A (p.Arg321Gln) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000689590] Chr14:102903256 [GRCh38]
Chr14:103369593 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_003300.4(TRAF3):c.487C>T (p.Arg163Ter) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000691548] Chr14:102876442 [GRCh38]
Chr14:103342779 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_003300.4(TRAF3):c.488G>A (p.Arg163Gln) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000691750] Chr14:102876443 [GRCh38]
Chr14:103342780 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q32.32(chr14:103242725-103244346)x1 copy number loss not provided [RCV000738595] Chr14:103242725..103244346 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103242725-103244575)x1 copy number loss not provided [RCV000738596] Chr14:103242725..103244575 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103243339-103244448)x1 copy number loss not provided [RCV000738597] Chr14:103243339..103244448 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103243339-103244522)x1 copy number loss not provided [RCV000738598] Chr14:103243339..103244522 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103243339-103244575)x1 copy number loss not provided [RCV000738599] Chr14:103243339..103244575 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103243875-103244448)x0 copy number loss not provided [RCV000738600] Chr14:103243875..103244448 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103243875-103244575)x1 copy number loss not provided [RCV000738601] Chr14:103243875..103244575 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.31-32.32(chr14:102423214-103518117)x1 copy number loss not provided [RCV000751121] Chr14:102423214..103518117 [GRCh37]
Chr14:14q32.31-32.32
likely pathogenic
GRCh37/hg19 14q32.32(chr14:103238458-103244575)x1 copy number loss not provided [RCV000751124] Chr14:103238458..103244575 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103238458-103261300)x0 copy number loss not provided [RCV000751125] Chr14:103238458..103261300 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q32.32(chr14:103289590-103420739)x3 copy number gain not provided [RCV000762693] Chr14:103289590..103420739 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1376A>G (p.Tyr459Cys) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001066726] Chr14:102905453 [GRCh38]
Chr14:103371790 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1099G>A (p.Val367Met) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001046127] Chr14:102903393 [GRCh38]
Chr14:103369730 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1194C>T (p.Arg398=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000884867] Chr14:102905271 [GRCh38]
Chr14:103371608 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1251G>T (p.Val417=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001473344]|not provided [RCV000928470] Chr14:102905328 [GRCh38]
Chr14:103371665 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1092G>A (p.Leu364=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000902906] Chr14:102903386 [GRCh38]
Chr14:103369723 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.1296C>T (p.Ala432=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000970536] Chr14:102905373 [GRCh38]
Chr14:103371710 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.1689G>A (p.Ser563=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000971225] Chr14:102905766 [GRCh38]
Chr14:103372103 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.36G>A (p.Ala12=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001423345]|not provided [RCV000897724] Chr14:102870237 [GRCh38]
Chr14:103336574 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.42G>C (p.Gln14His) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001038981] Chr14:102870243 [GRCh38]
Chr14:103336580 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1015C>G (p.Pro339Ala) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001057400] Chr14:102903309 [GRCh38]
Chr14:103369646 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.245+6C>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001054351] Chr14:102870452 [GRCh38]
Chr14:103336789 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.34G>A (p.Ala12Thr) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001057503] Chr14:102870235 [GRCh38]
Chr14:103336572 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.819+4G>A single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000970660] Chr14:102891421 [GRCh38]
Chr14:103357758 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.270G>A (p.Ala90=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000944528] Chr14:102871941 [GRCh38]
Chr14:103338278 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1200C>T (p.Ala400=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001466336]|not provided [RCV000931474] Chr14:102905277 [GRCh38]
Chr14:103371614 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.652-7G>A single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000942802] Chr14:102889553 [GRCh38]
Chr14:103355890 [GRCh37]
Chr14:14q32.32
likely benign
NM_003300.4(TRAF3):c.1021C>T (p.Arg341Trp) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000796583] Chr14:102903315 [GRCh38]
Chr14:103369652 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_003300.4(TRAF3):c.735C>A (p.Asn245Lys) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000798246] Chr14:102891333 [GRCh38]
Chr14:103357670 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1425dup (p.Val476fs) duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV000792641] Chr14:102905496..102905497 [GRCh38]
Chr14:103371833..103371834 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
NM_003300.4(TRAF3):c.1109G>A (p.Ser370Asn) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000813628] Chr14:102903403 [GRCh38]
Chr14:103369740 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_003300.4(TRAF3):c.297+6del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV000824047] Chr14:102871974 [GRCh38]
Chr14:103338311 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102709744-103453834)x4 copy number gain not provided [RCV000848014] Chr14:102709744..103453834 [GRCh37]
Chr14:14q32.31-32.32
uncertain significance
NC_000014.8:g.(?_103355877)_(103395332_?)dup duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV000803917] Chr14:102889540..102928995 [GRCh38]
Chr14:103355877..103395332 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102824097-103427144)x3 copy number gain not provided [RCV001006655] Chr14:102824097..103427144 [GRCh37]
Chr14:14q32.31-32.32
uncertain significance
NM_003300.4(TRAF3):c.806C>T (p.Ser269Leu) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000818198] Chr14:102891404 [GRCh38]
Chr14:103357741 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:103148050-103521100)x3 copy number gain not provided [RCV000846594] Chr14:103148050..103521100 [GRCh37]
Chr14:14q32.31-32.32
uncertain significance
GRCh37/hg19 14q32.32(chr14:103361735-103422077)x3 copy number gain not provided [RCV000849423] Chr14:103361735..103422077 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_145725.3(TRAF3):c.1466delinsTTCCTTG (p.Pro489delinsLeuProTrp) indel Herpes simplex encephalitis, susceptibility to, 3 [RCV001248264] Chr14:102905543 [GRCh38]
Chr14:103371880 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.568C>A (p.Gln190Lys) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001209539] Chr14:102876523 [GRCh38]
Chr14:103342860 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.730A>T (p.Thr244Ser) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001203219] Chr14:102891328 [GRCh38]
Chr14:103357665 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.402+7A>G single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001464479]|not provided [RCV000936630] Chr14:102875735 [GRCh38]
Chr14:103342072 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1644T>C (p.Tyr548=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001437317]|not provided [RCV000978536] Chr14:102905721 [GRCh38]
Chr14:103372058 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.651+8C>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000921867] Chr14:102886277 [GRCh38]
Chr14:103352614 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.270G>T (p.Ala90=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV000944137] Chr14:102871941 [GRCh38]
Chr14:103338278 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1112C>T (p.Ala371Val) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001205967] Chr14:102903406 [GRCh38]
Chr14:103369743 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.513del (p.Lys171fs) deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV001050608] Chr14:102876466 [GRCh38]
Chr14:103342803 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.74G>T (p.Arg25Leu) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001070062] Chr14:102870275 [GRCh38]
Chr14:103336612 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.562G>A (p.Ala188Thr) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001071810] Chr14:102876517 [GRCh38]
Chr14:103342854 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.188C>T (p.Pro63Leu) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001208799] Chr14:102870389 [GRCh38]
Chr14:103336726 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.989T>C (p.Leu330Pro) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001218919] Chr14:102903283 [GRCh38]
Chr14:103369620 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.269C>T (p.Ala90Val) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001201996] Chr14:102871940 [GRCh38]
Chr14:103338277 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
NM_145725.3(TRAF3):c.428T>G (p.Phe143Cys) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001058142] Chr14:102876383 [GRCh38]
Chr14:103342720 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1634A>G (p.Asn545Ser) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001058408] Chr14:102905711 [GRCh38]
Chr14:103372048 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.74G>A (p.Arg25His) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001058429] Chr14:102870275 [GRCh38]
Chr14:103336612 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1616C>G (p.Ala539Gly) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001211594] Chr14:102905693 [GRCh38]
Chr14:103372030 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.718G>A (p.Val240Ile) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001035288] Chr14:102889626 [GRCh38]
Chr14:103355963 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.596G>T (p.Cys199Phe) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001069828] Chr14:102886214 [GRCh38]
Chr14:103352551 [GRCh37]
Chr14:14q32.32
uncertain significance
GRCh37/hg19 14q32.31-32.32(chr14:102978837-103503417)x3 copy number gain not provided [RCV001259800] Chr14:102978837..103503417 [GRCh37]
Chr14:14q32.31-32.32
uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_145725.3(TRAF3):c.1591G>A (p.Ala531Thr) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001324907] Chr14:102905668 [GRCh38]
Chr14:103372005 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.73C>T (p.Arg25Cys) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001350295] Chr14:102870274 [GRCh38]
Chr14:103336611 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1105A>G (p.Lys369Glu) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001305707] Chr14:102903399 [GRCh38]
Chr14:103369736 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1012C>T (p.Arg338Trp) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001300138] Chr14:102903306 [GRCh38]
Chr14:103369643 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.563C>A (p.Ala188Glu) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001317250] Chr14:102876518 [GRCh38]
Chr14:103342855 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.297+11G>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001396645] Chr14:102871979 [GRCh38]
Chr14:103338316 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.570G>C (p.Gln190His) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001370831] Chr14:102876525 [GRCh38]
Chr14:103342862 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.139G>A (p.Val47Met) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001370446] Chr14:102870340 [GRCh38]
Chr14:103336677 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.1136-10C>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001415423] Chr14:102905203 [GRCh38]
Chr14:103371540 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.969dup (p.Asp324fs) duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV001352007] Chr14:102903262..102903263 [GRCh38]
Chr14:103369599..103369600 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.577G>A (p.Glu193Lys) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001339174] Chr14:102886195 [GRCh38]
Chr14:103352532 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.35C>T (p.Ala12Val) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001305059] Chr14:102870236 [GRCh38]
Chr14:103336573 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.782A>G (p.Asn261Ser) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001370971] Chr14:102891380 [GRCh38]
Chr14:103357717 [GRCh37]
Chr14:14q32.32
uncertain significance
NC_000014.8:g.(?_103336519)_(103397037_?)dup duplication Herpes simplex encephalitis, susceptibility to, 3 [RCV001319584] Chr14:103336519..103397037 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.16A>G (p.Lys6Glu) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001363835] Chr14:102870217 [GRCh38]
Chr14:103336554 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.51G>A (p.Pro17=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001395978] Chr14:102870252 [GRCh38]
Chr14:103336589 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1395G>A (p.Met465Ile) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001305090] Chr14:102905472 [GRCh38]
Chr14:103371809 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.563C>T (p.Ala188Val) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001340356] Chr14:102876518 [GRCh38]
Chr14:103342855 [GRCh37]
Chr14:14q32.32
uncertain significance
NM_145725.3(TRAF3):c.198C>G (p.Thr66=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001412438] Chr14:102870399 [GRCh38]
Chr14:103336736 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.652-8C>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001440793] Chr14:102889552 [GRCh38]
Chr14:103355889 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1416G>A (p.Ser472=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001519038] Chr14:102905493 [GRCh38]
Chr14:103371830 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.1227G>A (p.Leu409=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001436751] Chr14:102905304 [GRCh38]
Chr14:103371641 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.576C>T (p.His192=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001516736] Chr14:102886194 [GRCh38]
Chr14:103352531 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.507G>C (p.Ala169=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001480625] Chr14:102876462 [GRCh38]
Chr14:103342799 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.9G>C (p.Ser3=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001492921] Chr14:102870210 [GRCh38]
Chr14:103336547 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.820-15G>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001523025] Chr14:102897246 [GRCh38]
Chr14:103363583 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.1113G>A (p.Ala371=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001491889] Chr14:102903407 [GRCh38]
Chr14:103369744 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.933T>C (p.Asn311=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001493542] Chr14:102897374 [GRCh38]
Chr14:103363711 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1317C>G (p.Ser439=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001411785] Chr14:102905394 [GRCh38]
Chr14:103371731 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.996G>A (p.Glu332=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001432455] Chr14:102903290 [GRCh38]
Chr14:103369627 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1626T>C (p.Val542=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001445988] Chr14:102905703 [GRCh38]
Chr14:103372040 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.570+9C>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001426357] Chr14:102876534 [GRCh38]
Chr14:103342871 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.777C>T (p.His259=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001432761] Chr14:102891375 [GRCh38]
Chr14:103357712 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.153C>T (p.Tyr51=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001439716] Chr14:102870354 [GRCh38]
Chr14:103336691 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.564G>A (p.Ala188=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001410576] Chr14:102876519 [GRCh38]
Chr14:103342856 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.765C>T (p.Ser255=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001398455] Chr14:102891363 [GRCh38]
Chr14:103357700 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1389C>T (p.Asp463=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001425652] Chr14:102905466 [GRCh38]
Chr14:103371803 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.267A>C (p.Thr89=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001438199] Chr14:102871938 [GRCh38]
Chr14:103338275 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.386_387inv (p.Met129Thr) inversion Herpes simplex encephalitis, susceptibility to, 3 [RCV001479340] Chr14:102875712..102875713 [GRCh38]
Chr14:103342049..103342050 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1485A>G (p.Thr495=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001510638] Chr14:102905562 [GRCh38]
Chr14:103371899 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.621G>A (p.Lys207=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001483550] Chr14:102886239 [GRCh38]
Chr14:103352576 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.747G>A (p.Lys249=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001489422] Chr14:102891345 [GRCh38]
Chr14:103357682 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1383C>T (p.Asn461=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001472885] Chr14:102905460 [GRCh38]
Chr14:103371797 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1242C>T (p.Tyr414=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001439524] Chr14:102905319 [GRCh38]
Chr14:103371656 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.570+20A>G single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001513807] Chr14:102876545 [GRCh38]
Chr14:103342882 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.1314G>C (p.Leu438=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001510032] Chr14:102905391 [GRCh38]
Chr14:103371728 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.245+16C>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001523163] Chr14:102870462 [GRCh38]
Chr14:103336799 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.768C>T (p.Ala256=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001485949] Chr14:102891366 [GRCh38]
Chr14:103357703 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.386T>C (p.Met129Thr) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001518952] Chr14:102875712 [GRCh38]
Chr14:103342049 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.1224C>G (p.Val408=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001512832] Chr14:102905301 [GRCh38]
Chr14:103371638 [GRCh37]
Chr14:14q32.32
benign
NM_145725.3(TRAF3):c.1143G>A (p.Leu381=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001398578] Chr14:102905220 [GRCh38]
Chr14:103371557 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.1413G>A (p.Leu471=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001426155] Chr14:102905490 [GRCh38]
Chr14:103371827 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.727-4G>T single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001481048] Chr14:102891321 [GRCh38]
Chr14:103357658 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.729G>A (p.Gly243=) single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001424261] Chr14:102891327 [GRCh38]
Chr14:103357664 [GRCh37]
Chr14:14q32.32
likely benign
NM_145725.3(TRAF3):c.297+19T>A single nucleotide variant Herpes simplex encephalitis, susceptibility to, 3 [RCV001518203] Chr14:102871987 [GRCh38]
Chr14:103338324 [GRCh37]
Chr14:14q32.32
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12033 AgrOrtholog
COSMIC TRAF3 COSMIC
Ensembl Genes ENSG00000131323 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000328003 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000332468 UniProtKB/TrEMBL
  ENSP00000376500 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000445998 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000453031 UniProtKB/TrEMBL
  ENSP00000453032 UniProtKB/TrEMBL
  ENSP00000453623 UniProtKB/TrEMBL
  ENSP00000454207 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000347662 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000351691 UniProtKB/TrEMBL
  ENST00000392745 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000539721 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000558700 UniProtKB/TrEMBL
  ENST00000559734 UniProtKB/TrEMBL
  ENST00000560371 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000560463 UniProtKB/TrEMBL
Gene3D-CATH 2.60.210.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131323 GTEx
HGNC ID HGNC:12033 ENTREZGENE
Human Proteome Map TRAF3 Human Proteome Map
InterPro MATH/TRAF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_rcpt--assoc_TRAF UniProtKB/Swiss-Prot
  TNF_rcpt-assoc_TRAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TNF_rcpt-assoc_TRAF_met UniProtKB/TrEMBL
  TRAF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF3_MATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C3HC4_RING-type UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_TRAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7187 UniProtKB/Swiss-Prot
NCBI Gene 7187 ENTREZGENE
OMIM 601896 OMIM
  614849 OMIM
PANTHER PTHR10131 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10131:SF76 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-C3HC4 UniProtKB/TrEMBL
  zf-TRAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36710 PharmGKB
PIRSF TRAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_TRAF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART MATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49599 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R6N1_HUMAN UniProtKB/TrEMBL
  A6NHG8 ENTREZGENE, UniProtKB/TrEMBL
  H0YL25_HUMAN UniProtKB/TrEMBL
  H0YL26_HUMAN UniProtKB/TrEMBL
  H0YMI8_HUMAN UniProtKB/TrEMBL
  Q13114 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7Z8C4 UniProtKB/Swiss-Prot
  Q12990 UniProtKB/Swiss-Prot
  Q13076 UniProtKB/Swiss-Prot
  Q13947 UniProtKB/Swiss-Prot
  Q6AZX1 UniProtKB/Swiss-Prot
  Q9UNL1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TRAF3  TNF receptor associated factor 3    TNF receptor-associated factor 3  Symbol and/or name change 5135510 APPROVED