EPHA2 (EPH receptor A2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: EPHA2 (EPH receptor A2) Homo sapiens
Analyze
Symbol: EPHA2
Name: EPH receptor A2
RGD ID: 1316258
HGNC Page HGNC
Description: Exhibits transmembrane receptor protein tyrosine kinase activity. Involved in several processes, including activation of GTPase activity; intracellular signal transduction; and regulation of intracellular signal transduction. Localizes to several cellular components, including focal adhesion; lamellipodium; and tight junction. Implicated in cataract 6 multiple types.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARCC2; CTPA; CTPP1; CTRCT6; ECK; ephrin type-A receptor 2; epithelial cell receptor protein tyrosine kinase; soluble EPHA2 variant 1; tyrosine-protein kinase receptor ECK
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl116,124,337 - 16,156,069 (-)EnsemblGRCh38hg38GRCh38
GRCh38116,124,337 - 16,156,104 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37116,450,832 - 16,482,564 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,323,419 - 16,355,151 (-)NCBINCBI36hg18NCBI36
Build 34116,196,138 - 16,227,870NCBI
Celera114,930,817 - 14,962,560 (-)NCBI
Cytogenetic Map1p36.13NCBI
HuRef114,968,749 - 15,000,153 (-)NCBIHuRef
CHM1_1116,249,454 - 16,281,203 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bexarotene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium dichloride  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cholanic acid  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
decabromodiphenyl ether  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxazosin  (ISO)
doxorubicin  (EXP)
entinostat  (EXP)
fenamidone  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
hydrogen peroxide  (EXP,ISO)
indole-3-methanol  (ISO)
lead diacetate  (ISO)
leflunomide  (EXP)
lithocholic acid  (EXP,ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
metacetamol  (ISO)
methapyrilene  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP,ISO)
mitomycin C  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nickel subsulfide  (EXP)
orphenadrine  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenylmercury acetate  (EXP)
phosgene  (ISO)
pirinixic acid  (ISO)
ponatinib  (EXP)
propanal  (EXP)
quercetin  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (EXP)
Soman  (ISO)
Testosterone propionate  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triadimefon  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of GTPase activity  (IMP)
axial mesoderm formation  (IEA,ISO)
axon guidance  (IBA)
blood vessel development  (ISO)
blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IEA,ISO)
blood vessel morphogenesis  (ISO)
bone remodeling  (ISS)
branching involved in mammary gland duct morphogenesis  (ISS)
cAMP metabolic process  (IMP)
cell adhesion  (IEA)
cell chemotaxis  (IMP)
cell migration  (IMP)
cell motility  (IMP)
defense response to Gram-positive bacterium  (IEA,ISO)
ephrin receptor signaling pathway  (IDA,ISO,TAS)
inflammatory response  (IEA,ISO)
intrinsic apoptotic signaling pathway in response to DNA damage  (IDA)
keratinocyte differentiation  (IMP)
lens fiber cell morphogenesis  (ISS)
mammary gland epithelial cell proliferation  (ISS)
negative regulation of angiogenesis  (IEA,ISO)
negative regulation of chemokine production  (IEA,ISO)
negative regulation of cytokine production  (ISO)
negative regulation of lymphangiogenesis  (IEA,ISO)
negative regulation of protein kinase B signaling  (IDA)
neural tube development  (IEA,ISO)
neuron differentiation  (ISO)
notochord cell development  (IEA,ISO)
notochord formation  (IEA,ISO)
notochord morphogenesis  (ISO)
osteoblast differentiation  (ISS)
osteoclast differentiation  (ISS)
peptidyl-tyrosine phosphorylation  (IEA)
pericyte cell differentiation  (IEA,ISO)
positive regulation of bicellular tight junction assembly  (IMP)
positive regulation of kinase activity  (IBA)
positive regulation of protein localization to plasma membrane  (IMP)
post-anal tail morphogenesis  (IEA,ISO)
protein kinase B signaling  (IDA)
protein localization to plasma membrane  (IMP)
regulation of angiogenesis  (ISS)
regulation of blood vessel endothelial cell migration  (ISS)
regulation of cell adhesion mediated by integrin  (IDA)
regulation of ERK1 and ERK2 cascade  (IMP)
regulation of lamellipodium assembly  (IMP)
response to growth factor  (IMP)
skeletal system development  (IEA,ISO)
transmembrane receptor protein tyrosine kinase signaling pathway  (IBA)
vasculogenesis  (IEA,ISO)
viral entry into host cell  (IEA)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:2174105   PMID:7536959   PMID:7543898   PMID:7890684   PMID:7973638   PMID:7982920   PMID:8183555   PMID:8755474   PMID:9119409   PMID:9245480   PMID:9267020   PMID:9530499  
PMID:9576626   PMID:10207129   PMID:10502115   PMID:10607706   PMID:10655584   PMID:10730216   PMID:11128993   PMID:11146556   PMID:11256076   PMID:11968011   PMID:12147253   PMID:12167657  
PMID:12351647   PMID:12370823   PMID:12400011   PMID:12467573   PMID:12477932   PMID:12494475   PMID:12496364   PMID:12496371   PMID:12576426   PMID:12650608   PMID:12651595   PMID:12810680  
PMID:12907451   PMID:14633601   PMID:14679012   PMID:14692877   PMID:14767510   PMID:14965363   PMID:14988728   PMID:15193868   PMID:15249202   PMID:15297418   PMID:15498927   PMID:15561974  
PMID:15649254   PMID:15657067   PMID:15671550   PMID:15688035   PMID:15777695   PMID:15951569   PMID:16051609   PMID:16098464   PMID:16103880   PMID:16236711   PMID:16428472   PMID:16481735  
PMID:16737551   PMID:16862074   PMID:16969087   PMID:17050670   PMID:17154180   PMID:17192257   PMID:17332925   PMID:17374733   PMID:17519535   PMID:17980912   PMID:18059341   PMID:18079969  
PMID:18097589   PMID:18172271   PMID:18198190   PMID:18210872   PMID:18339848   PMID:18425361   PMID:18443431   PMID:18566674   PMID:18593464   PMID:18648668   PMID:18768213   PMID:18794797  
PMID:18797457   PMID:18948590   PMID:18991394   PMID:19005574   PMID:19048396   PMID:19074825   PMID:19101799   PMID:19193766   PMID:19223760   PMID:19264906   PMID:19306328   PMID:19322201  
PMID:19523119   PMID:19525919   PMID:19531623   PMID:19573808   PMID:19581412   PMID:19642143   PMID:19649315   PMID:19690146   PMID:19724921   PMID:19828693   PMID:19898482   PMID:19934338  
PMID:19934926   PMID:19948216   PMID:19949912   PMID:19950554   PMID:20028874   PMID:20197042   PMID:20223987   PMID:20228801   PMID:20360610   PMID:20361013   PMID:20388851   PMID:20505120  
PMID:20516612   PMID:20571968   PMID:20602165   PMID:20614133   PMID:20679435   PMID:20837138   PMID:20861311   PMID:20948320   PMID:21166698   PMID:21205836   PMID:21264258   PMID:21408136  
PMID:21423176   PMID:21500549   PMID:21516087   PMID:21538645   PMID:21575519   PMID:21666714   PMID:21686326   PMID:21726568   PMID:21737611   PMID:21832049   PMID:21873635   PMID:21873938  
PMID:21935409   PMID:21955398   PMID:21988832   PMID:22001757   PMID:22009484   PMID:22036564   PMID:22086185   PMID:22184117   PMID:22236865   PMID:22244754   PMID:22256737   PMID:22261062  
PMID:22332920   PMID:22362770   PMID:22412971   PMID:22509030   PMID:22568954   PMID:22570727   PMID:22585860   PMID:22635007   PMID:22939624   PMID:22939629   PMID:23037715   PMID:23209418  
PMID:23238013   PMID:23298804   PMID:23315987   PMID:23318428   PMID:23358419   PMID:23588386   PMID:23629968   PMID:23661698   PMID:23686814   PMID:23752181   PMID:23874206   PMID:23951165  
PMID:23976972   PMID:24014202   PMID:24064975   PMID:24285539   PMID:24457997   PMID:24458982   PMID:24486585   PMID:24488013   PMID:24503792   PMID:24607842   PMID:24647573   PMID:24673449  
PMID:24713656   PMID:24717580   PMID:24733396   PMID:24797263   PMID:24825902   PMID:24853748   PMID:24864260   PMID:24899181   PMID:24908114   PMID:24940039   PMID:24969670   PMID:25023279  
PMID:25063221   PMID:25063885   PMID:25239188   PMID:25281742   PMID:25310629   PMID:25344320   PMID:25366905   PMID:25468996   PMID:25478832   PMID:25542447   PMID:25542448   PMID:25613580  
PMID:25906164   PMID:25921289   PMID:26088362   PMID:26120079   PMID:26130649   PMID:26158630   PMID:26177500   PMID:26186194   PMID:26191168   PMID:26283684   PMID:26363067   PMID:26496610  
PMID:26520689   PMID:26565750   PMID:26638075   PMID:26722543   PMID:26724997   PMID:26744526   PMID:26843134   PMID:26854480   PMID:26900323   PMID:27056569   PMID:27132626   PMID:27281300  
PMID:27377895   PMID:27380975   PMID:27385333   PMID:27401248   PMID:27412940   PMID:27438907   PMID:27533087   PMID:27559086   PMID:27684187   PMID:27764233   PMID:27776928   PMID:27815408  
PMID:27903606   PMID:28065597   PMID:28165374   PMID:28205554   PMID:28294115   PMID:28319085   PMID:28338017   PMID:28378594   PMID:28514442   PMID:28581527   PMID:28585531   PMID:28602916  
PMID:28624791   PMID:28628118   PMID:28675297   PMID:28705041   PMID:28855599   PMID:28883622   PMID:29039721   PMID:29133884   PMID:29208682   PMID:29212245   PMID:29267365   PMID:29273006  
PMID:29416926   PMID:29429298   PMID:29449527   PMID:29482609   PMID:29491103   PMID:29554915   PMID:29568061   PMID:29582409   PMID:29626472   PMID:29705292   PMID:29759486   PMID:29793020  
PMID:29848674   PMID:29901110   PMID:29945963   PMID:29948146   PMID:29969628   PMID:29975762   PMID:30021884   PMID:30176543   PMID:30194290   PMID:30222105   PMID:30412282   PMID:30451837  
PMID:30501625   PMID:30521133   PMID:30583071   PMID:30604411   PMID:30639242   PMID:30771434   PMID:30824612   PMID:30833656   PMID:30898150   PMID:30950031   PMID:30957241   PMID:31073040  
PMID:31152846   PMID:31160603   PMID:31162144   PMID:31291578   PMID:31376289   PMID:31407253   PMID:31462741   PMID:31558317   PMID:31678930   PMID:31685088   PMID:31725171   PMID:31980649  
PMID:31999807   PMID:32005975   PMID:32102381   PMID:32165640   PMID:32170114   PMID:32296199   PMID:32348765   PMID:32376822   PMID:32574556   PMID:32721428   PMID:32737118   PMID:32780723  
PMID:32847853   PMID:32848131   PMID:32897354   PMID:32945400   PMID:32990903   PMID:33671840   PMID:33834064   PMID:33845483   PMID:33957083  


Genomics

Comparative Map Data
EPHA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl116,124,337 - 16,156,069 (-)EnsemblGRCh38hg38GRCh38
GRCh38116,124,337 - 16,156,104 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37116,450,832 - 16,482,564 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,323,419 - 16,355,151 (-)NCBINCBI36hg18NCBI36
Build 34116,196,138 - 16,227,870NCBI
Celera114,930,817 - 14,962,560 (-)NCBI
Cytogenetic Map1p36.13NCBI
HuRef114,968,749 - 15,000,153 (-)NCBIHuRef
CHM1_1116,249,454 - 16,281,203 (-)NCBICHM1_1
Epha2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394141,028,532 - 141,056,695 (+)NCBIGRCm39mm39
GRCm39 Ensembl4141,028,551 - 141,056,695 (+)Ensembl
GRCm384141,301,221 - 141,329,384 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4141,301,240 - 141,329,384 (+)EnsemblGRCm38mm10GRCm38
MGSCv374140,857,155 - 140,885,293 (+)NCBIGRCm37mm9NCBIm37
MGSCv364140,573,316 - 140,601,454 (+)NCBImm8
Celera4143,116,872 - 143,145,199 (+)NCBICelera
Cytogenetic Map4D3NCBI
cM Map473.67NCBI
Epha2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25153,605,644 - 153,634,115 (+)NCBI
Rnor_6.0 Ensembl5159,845,774 - 159,874,206 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05159,845,773 - 159,874,203 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05163,558,669 - 163,586,206 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45160,185,143 - 160,214,727 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15160,190,327 - 160,224,048 (+)NCBI
Celera5151,971,932 - 152,000,092 (+)NCBICelera
Cytogenetic Map5q36NCBI
Epha2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555272,120,266 - 2,152,781 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555272,120,447 - 2,151,932 (+)NCBIChiLan1.0ChiLan1.0
EPHA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1116,253,509 - 16,284,787 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,253,513 - 16,284,787 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0115,259,915 - 15,292,983 (-)NCBIMhudiblu_PPA_v0panPan3
EPHA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1281,534,130 - 81,561,722 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl281,534,125 - 81,561,725 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,070,108 - 78,097,636 (+)NCBI
ROS_Cfam_1.0282,179,960 - 82,207,481 (+)NCBI
UMICH_Zoey_3.1278,933,025 - 78,960,551 (+)NCBI
UNSW_CanFamBas_1.0279,950,185 - 79,977,704 (+)NCBI
UU_Cfam_GSD_1.0281,018,093 - 81,045,632 (+)NCBI
Epha2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505837,823,596 - 37,849,129 (-)NCBI
SpeTri2.0NW_0049364743,648,395 - 3,673,856 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPHA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl675,251,467 - 75,279,314 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1675,251,465 - 75,279,364 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2669,567,147 - 69,595,017 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EPHA2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120116,147,077 - 116,178,647 (+)NCBI
ChlSab1.1 Ensembl20116,147,040 - 116,178,644 (+)Ensembl
Vero_WHO_p1.0NW_02366605419,643,306 - 19,675,426 (+)NCBI
Epha2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247642,265,114 - 2,296,032 (-)NCBI

Position Markers
EPHA2_31  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,450,757 - 16,451,636UniSTSGRCh37
Build 36116,323,344 - 16,324,223RGDNCBI36
Celera114,930,742 - 14,931,621RGD
HuRef114,968,674 - 14,969,553UniSTS
RH17703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,450,857 - 16,451,067UniSTSGRCh37
Build 36116,323,444 - 16,323,654RGDNCBI36
Celera114,930,842 - 14,931,052RGD
Cytogenetic Map1p36UniSTS
HuRef114,968,774 - 14,968,984UniSTS
GeneMap99-GB4 RH Map162.53UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR26Bhsa-miR-26b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21264258
MIR26Bhsa-miR-26b-5pOncomiRDBexternal_infoNANA21264258

Predicted Target Of
Summary Value
Count of predictions:1118
Count of miRNA genes:674
Interacting mature miRNAs:762
Transcripts:ENST00000358432, ENST00000461614, ENST00000462805, ENST00000480202
Prediction methods:Microtar, Miranda, Rnahybrid
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 2 3
Medium 1463 1390 1267 404 340 246 3259 639 903 309 934 1508 171 1185 1717 1
Low 969 868 457 219 545 219 1097 1552 2779 110 519 88 3 1 19 1071 3 1
Below cutoff 4 703 2 1 922 4 46 3 16 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AI302504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY052403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB991812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS026995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS542490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU826606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM868963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM879993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH976540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY005615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358432   ⟹   ENSP00000351209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,124,337 - 16,156,069 (-)Ensembl
RefSeq Acc Id: ENST00000461614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,148,378 - 16,156,052 (-)Ensembl
RefSeq Acc Id: ENST00000462805
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,133,013 - 16,133,562 (-)Ensembl
RefSeq Acc Id: ENST00000480202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,134,560 - 16,146,450 (-)Ensembl
RefSeq Acc Id: NM_001329090   ⟹   NP_001316019
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,124,337 - 16,156,069 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004431   ⟹   NP_004422
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,124,337 - 16,156,069 (-)NCBI
GRCh37116,450,832 - 16,482,582 (-)ENTREZGENE
Build 36116,323,419 - 16,355,151 (-)NCBI Archive
HuRef114,968,749 - 15,000,153 (-)ENTREZGENE
CHM1_1116,249,454 - 16,281,203 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017000537   ⟹   XP_016856026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,133,924 - 16,156,104 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004422   ⟸   NM_004431
- Peptide Label: isoform 1 precursor
- UniProtKB: P29317 (UniProtKB/Swiss-Prot),   A0A024QZA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016856026   ⟸   XM_017000537
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001316019   ⟸   NM_001329090
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: ENSP00000351209   ⟸   ENST00000358432
Protein Domains
Eph LBD   Fibronectin type-III   Protein kinase   SAM

Promoters
RGD ID:6854248
Promoter ID:EPDNEW_H289
Type:initiation region
Name:EPHA2_1
Description:EPH receptor A2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,156,069 - 16,156,129EPDNEW
RGD ID:6785507
Promoter ID:HG_KWN:926
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:OTTHUMT00000026324
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,345,291 - 16,346,442 (-)MPROMDB
RGD ID:6785506
Promoter ID:HG_KWN:928
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000407976,   OTTHUMT00000026322,   OTTHUMT00000026323
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,355,041 - 16,355,942 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
EPHA2, 2-BP DEL, 2915TG deletion Cataract 6, multiple types [RCV000014170] Chr1:1p36.1 pathogenic
EPHA2, IVS16, G-A, -9 single nucleotide variant Cataract 6, multiple types [RCV000014171] Chr1:1p36.1 pathogenic
NM_004431.5(EPHA2):c.681C>T (p.Ala227=) single nucleotide variant Cataract 6, multiple types [RCV000553338] Chr1:16148520 [GRCh38]
Chr1:16475015 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.2842G>T (p.Gly948Trp) single nucleotide variant Cataract 6, multiple types [RCV000014168] Chr1:16125304 [GRCh38]
Chr1:16451799 [GRCh37]
Chr1:1p36.13
pathogenic
NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile) single nucleotide variant Cataract 6, multiple types [RCV000014169] Chr1:16129440 [GRCh38]
Chr1:16455935 [GRCh37]
Chr1:1p36.13
pathogenic
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) single nucleotide variant Cataract 6, age-related cortical [RCV000014172]|Cataract 6, multiple types [RCV000368763]|Cortical senile cataract [RCV000442224] Chr1:16132227 [GRCh38]
Chr1:16458722 [GRCh37]
Chr1:1p36.13
pathogenic|likely pathogenic|likely benign
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3 copy number gain See cases [RCV000051799] Chr1:13619979..18466172 [GRCh38]
Chr1:13946474..18792666 [GRCh37]
Chr1:13819061..18665253 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1 copy number loss See cases [RCV000053763] Chr1:10621776..16520709 [GRCh38]
Chr1:10681833..16847204 [GRCh37]
Chr1:10604420..16719791 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1 copy number loss See cases [RCV000053765] Chr1:10809039..16422500 [GRCh38]
Chr1:10869096..16748995 [GRCh37]
Chr1:10791683..16621582 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1 copy number loss See cases [RCV000053766] Chr1:11121625..16324498 [GRCh38]
Chr1:11181682..16650993 [GRCh37]
Chr1:11104269..16523580 [NCBI36]
Chr1:1p36.22-36.13
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-18242678)x1 copy number loss See cases [RCV000053769] Chr1:15173497..18242678 [GRCh38]
Chr1:15499993..18569172 [GRCh37]
Chr1:15372580..18441759 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15173497-17019576)x1 copy number loss See cases [RCV000053771] Chr1:15173497..17019576 [GRCh38]
Chr1:15499993..17346071 [GRCh37]
Chr1:15372580..17218658 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
NM_004431.3(EPHA2):c.1334A>G (p.Glu445Gly) single nucleotide variant Malignant melanoma [RCV000064286] Chr1:16135749 [GRCh38]
Chr1:16462244 [GRCh37]
Chr1:16334831 [NCBI36]
Chr1:1p36.13
not provided
NM_004431.5(EPHA2):c.2007G>T (p.Gln669His) single nucleotide variant not provided [RCV000171149] Chr1:16133226 [GRCh38]
Chr1:16459721 [GRCh37]
Chr1:1p36.13
likely pathogenic
GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1 copy number loss See cases [RCV000135597] Chr1:15052047..16499873 [GRCh38]
Chr1:15378543..16826368 [GRCh37]
Chr1:15251130..16698955 [NCBI36]
Chr1:1p36.21-36.13
likely pathogenic|uncertain significance
GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 copy number loss See cases [RCV000138070] Chr1:15681812..19662339 [GRCh38]
Chr1:16008307..19988832 [GRCh37]
Chr1:15880894..19861419 [NCBI36]
Chr1:1p36.21-36.13
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
NM_004431.5(EPHA2):c.2514A>G (p.Thr838=) single nucleotide variant Cataract 6, multiple types [RCV001089337]|not provided [RCV000828288] Chr1:16130381 [GRCh38]
Chr1:16456876 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.695A>G (p.Asp232Gly) single nucleotide variant Cataract 6, multiple types [RCV000871695] Chr1:16148506 [GRCh38]
Chr1:16475001 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1621G>A (p.Val541Met) single nucleotide variant Cataract 6, multiple types [RCV000545114] Chr1:16134529 [GRCh38]
Chr1:16461024 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.2919G>A (p.Gly973=) single nucleotide variant Cataract 6, multiple types [RCV000865100] Chr1:16125227 [GRCh38]
Chr1:16451722 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1843C>T (p.Arg615Trp) single nucleotide variant Cataract 6, multiple types [RCV000403532] Chr1:16133502 [GRCh38]
Chr1:16459997 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2875G>A (p.Ala959Thr) single nucleotide variant Cataract 6, multiple types [RCV000405208]|not provided [RCV000872055] Chr1:16125271 [GRCh38]
Chr1:16451766 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.830C>T (p.Ser277Leu) single nucleotide variant Cataract 6, multiple types [RCV000405272]|not provided [RCV000871683] Chr1:16138424 [GRCh38]
Chr1:16464919 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1608G>A (p.Ala536=) single nucleotide variant Cataract 6, multiple types [RCV000299124] Chr1:16134542 [GRCh38]
Chr1:16461037 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.583C>T (p.Arg195Cys) single nucleotide variant Cataract 6, multiple types [RCV000272752] Chr1:16148618 [GRCh38]
Chr1:16475113 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.1380G>A (p.Pro460=) single nucleotide variant Cataract 6, multiple types [RCV000274310] Chr1:16135703 [GRCh38]
Chr1:16462198 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.1941G>T (p.Thr647=) single nucleotide variant Cataract 6, multiple types [RCV000546449] Chr1:16133292 [GRCh38]
Chr1:16459787 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.2116-6C>T single nucleotide variant Cataract 6, multiple types [RCV000276554] Chr1:16132279 [GRCh38]
Chr1:16458774 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.1533G>A (p.Thr511=) single nucleotide variant Cataract 6, multiple types [RCV000277862] Chr1:16135085 [GRCh38]
Chr1:16461580 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.1170C>T (p.His390=) single nucleotide variant Cataract 6, multiple types [RCV000556094] Chr1:16137995 [GRCh38]
Chr1:16464490 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.154-5C>T single nucleotide variant Cataract 6, multiple types [RCV000265568] Chr1:16149052 [GRCh38]
Chr1:16475547 [GRCh37]
Chr1:1p36.13
benign|uncertain significance
NM_004431.5(EPHA2):c.1984G>A (p.Gly662Ser) single nucleotide variant Cataract 6, multiple types [RCV000279994] Chr1:16133249 [GRCh38]
Chr1:16459744 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.523C>T (p.Arg175Cys) single nucleotide variant Cataract 6, multiple types [RCV000269151] Chr1:16148678 [GRCh38]
Chr1:16475173 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.2904G>C (p.Gln968His) single nucleotide variant Cataract 6, multiple types [RCV000547983]|not specified [RCV000504072] Chr1:16125242 [GRCh38]
Chr1:16451737 [GRCh37]
Chr1:1p36.13
benign|likely benign|uncertain significance
NM_004431.5(EPHA2):c.1252G>A (p.Val418Ile) single nucleotide variant Cataract 6, multiple types [RCV000270678] Chr1:16137913 [GRCh38]
Chr1:16464408 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.453C>T (p.Thr151=) single nucleotide variant Cataract 6, multiple types [RCV000378759]|not provided [RCV000946029] Chr1:16148748 [GRCh38]
Chr1:16475243 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1892T>C (p.Met631Thr) single nucleotide variant Cataract 6, multiple types [RCV001087997]|not provided [RCV000828286] Chr1:16133341 [GRCh38]
Chr1:16459836 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.2374C>A (p.Arg792=) single nucleotide variant Cataract 6, multiple types [RCV000551757] Chr1:16131822 [GRCh38]
Chr1:16458317 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.606C>T (p.Pro202=) single nucleotide variant Cataract 6, multiple types [RCV000528692] Chr1:16148595 [GRCh38]
Chr1:16475090 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1512G>T (p.Leu504=) single nucleotide variant Cataract 6, multiple types [RCV001087996]|not provided [RCV000828285] Chr1:16135106 [GRCh38]
Chr1:16461601 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.2034A>G (p.Leu678=) single nucleotide variant Cataract 6, multiple types [RCV000558416]|not provided [RCV000828287] Chr1:16133199 [GRCh38]
Chr1:16459694 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.121C>G (p.Leu41Val) single nucleotide variant Cataract 6, multiple types [RCV000544272] Chr1:16150928 [GRCh38]
Chr1:16477423 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1951G>A (p.Gly651Ser) single nucleotide variant Age-related cortical cataract [RCV000375846] Chr1:16133282 [GRCh38]
Chr1:16459777 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.998A>G (p.His333Arg) single nucleotide variant Age-related cortical cataract [RCV000376767] Chr1:16138167 [GRCh38]
Chr1:16464662 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1978T>G (p.Phe660Val) single nucleotide variant Congenital cataract [RCV000203400] Chr1:16133255 [GRCh38]
Chr1:16459750 [GRCh37]
Chr1:1p36.13
uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Ductal breast carcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
NM_004431.5(EPHA2):c.1359C>T (p.Ser453=) single nucleotide variant Cataract 6, multiple types [RCV000329142]|not provided [RCV000644436] Chr1:16135724 [GRCh38]
Chr1:16462219 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.442G>A (p.Asp148Asn) single nucleotide variant not provided [RCV000519074] Chr1:16148759 [GRCh38]
Chr1:16475254 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile) single nucleotide variant Cataract 6, multiple types [RCV001078988]|not provided [RCV000522512] Chr1:16132150 [GRCh38]
Chr1:16458645 [GRCh37]
Chr1:1p36.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004431.5(EPHA2):c.507C>T (p.Ser169=) single nucleotide variant Cataract 6, multiple types [RCV000324171]|not provided [RCV000872715] Chr1:16148694 [GRCh38]
Chr1:16475189 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1215C>T (p.His405=) single nucleotide variant Cataract 6, multiple types [RCV000325748] Chr1:16137950 [GRCh38]
Chr1:16464445 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.2463G>A (p.Leu821=) single nucleotide variant Cataract 6, multiple types [RCV000307736] Chr1:16131733 [GRCh38]
Chr1:16458228 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.944G>A (p.Arg315Gln) single nucleotide variant Cataract 6, multiple types [RCV000873178] Chr1:16138310 [GRCh38]
Chr1:16464805 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.1532C>T (p.Thr511Met) single nucleotide variant Cataract 6, multiple types [RCV000644437] Chr1:16135086 [GRCh38]
Chr1:16461581 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.2097C>T (p.Ala699=) single nucleotide variant Cataract 6, multiple types [RCV000333691] Chr1:16132396 [GRCh38]
Chr1:16458891 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.2898G>A (p.Lys966=) single nucleotide variant Cataract 6, multiple types [RCV000338979] Chr1:16125248 [GRCh38]
Chr1:16451743 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.1864+12C>T single nucleotide variant Cataract 6, multiple types [RCV000344598] Chr1:16133469 [GRCh38]
Chr1:16459964 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1048C>A (p.Pro350Thr) single nucleotide variant Cataract 6, multiple types [RCV000340843]|not provided [RCV000870995] Chr1:16138117 [GRCh38]
Chr1:16464612 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1896G>A (p.Leu632=) single nucleotide variant Cataract 6, multiple types [RCV000533829] Chr1:16133337 [GRCh38]
Chr1:16459832 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1712C>T (p.Pro571Leu) single nucleotide variant Cataract 6, multiple types [RCV000348258] Chr1:16133886 [GRCh38]
Chr1:16460381 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) single nucleotide variant Cataract 6, multiple types [RCV000309694] Chr1:16133878 [GRCh38]
Chr1:16460373 [GRCh37]
Chr1:1p36.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_004431.5(EPHA2):c.714G>C (p.Pro238=) single nucleotide variant Cataract 6, multiple types [RCV000872034] Chr1:16148487 [GRCh38]
Chr1:16474982 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1583-15G>C single nucleotide variant Cataract 6, multiple types [RCV000353931] Chr1:16134582 [GRCh38]
Chr1:16461077 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.1314G>A (p.Glu438=) single nucleotide variant Cataract 6, multiple types [RCV000864295]|not specified [RCV000249228] Chr1:16135769 [GRCh38]
Chr1:16462264 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.2352C>T (p.Thr784=) single nucleotide variant Cataract 6, multiple types [RCV000272978]|not specified [RCV000249522] Chr1:16131844 [GRCh38]
Chr1:16458339 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.570G>A (p.Ala190=) single nucleotide variant Cataract 6, multiple types [RCV000363768]|not provided [RCV000828014]|not specified [RCV000249831] Chr1:16148631 [GRCh38]
Chr1:16475126 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.824-11G>A single nucleotide variant Cataract 6, multiple types [RCV000297216]|not specified [RCV000250152] Chr1:16138441 [GRCh38]
Chr1:16464936 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.573G>A (p.Leu191=) single nucleotide variant Cataract 6, multiple types [RCV000309096]|not provided [RCV000828015]|not specified [RCV000253199] Chr1:16148628 [GRCh38]
Chr1:16475123 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.1738+16C>T single nucleotide variant not specified [RCV000254225] Chr1:16133844 [GRCh38]
Chr1:16460339 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.*213C>T single nucleotide variant Cataract 6, multiple types [RCV000278468] Chr1:16125002 [GRCh38]
Chr1:16451497 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg) single nucleotide variant Cataract 6, multiple types [RCV000531723]|Squamous cell lung carcinoma [RCV000426150]|not specified [RCV000244271] Chr1:16137994 [GRCh38]
Chr1:16464489 [GRCh37]
Chr1:1p36.13
likely pathogenic|benign
NM_004431.5(EPHA2):c.*443T>C single nucleotide variant Cataract 6, multiple types [RCV000270600] Chr1:16124772 [GRCh38]
Chr1:16451267 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.2627G>A (p.Arg876His) single nucleotide variant Cataract 6, multiple types [RCV000535393]|not specified [RCV000254530] Chr1:16130268 [GRCh38]
Chr1:16456763 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.86-9C>T single nucleotide variant Cataract 6, multiple types [RCV000524976]|not specified [RCV000242104] Chr1:16150972 [GRCh38]
Chr1:16477467 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.1983C>T (p.Leu661=) single nucleotide variant Cataract 6, multiple types [RCV000318674]|not provided [RCV000842030]|not specified [RCV000244595] Chr1:16133250 [GRCh38]
Chr1:16459745 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.2874C>T (p.Ile958=) single nucleotide variant Cataract 6, multiple types [RCV000304354]|not provided [RCV000836751]|not specified [RCV000244865] Chr1:16125272 [GRCh38]
Chr1:16451767 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.648C>T (p.Ala216=) single nucleotide variant Cataract 6, multiple types [RCV000541285]|not specified [RCV000245191] Chr1:16148553 [GRCh38]
Chr1:16475048 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.987C>T (p.Pro329=) single nucleotide variant Cataract 6, multiple types [RCV000281939]|not provided [RCV000836750]|not specified [RCV000247172] Chr1:16138178 [GRCh38]
Chr1:16464673 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.*790C>T single nucleotide variant Cataract 6, multiple types [RCV000298958] Chr1:16124425 [GRCh38]
Chr1:16450920 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.*284C>T single nucleotide variant Cataract 6, multiple types [RCV000332257] Chr1:16124931 [GRCh38]
Chr1:16451426 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.-81G>T single nucleotide variant Cataract 6, multiple types [RCV000316417] Chr1:16156013 [GRCh38]
Chr1:16482508 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.*668G>T single nucleotide variant Cataract 6, multiple types [RCV000302406] Chr1:16124547 [GRCh38]
Chr1:16451042 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.*166G>A single nucleotide variant Cataract 6, multiple types [RCV000335984] Chr1:16125049 [GRCh38]
Chr1:16451544 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.*742T>A single nucleotide variant Cataract 6, multiple types [RCV000356001] Chr1:16124473 [GRCh38]
Chr1:16450968 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.*659T>A single nucleotide variant Cataract 6, multiple types [RCV000359435] Chr1:16124556 [GRCh38]
Chr1:16451051 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.*510G>A single nucleotide variant Cataract 6, multiple types [RCV000362756] Chr1:16124705 [GRCh38]
Chr1:16451200 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.*355A>G single nucleotide variant Cataract 6, multiple types [RCV000385642] Chr1:16124860 [GRCh38]
Chr1:16451355 [GRCh37]
Chr1:1p36.13
benign|likely benign
NM_004431.5(EPHA2):c.*297G>A single nucleotide variant Cataract 6, multiple types [RCV000293607] Chr1:16124918 [GRCh38]
Chr1:16451413 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.*360G>A single nucleotide variant Cataract 6, multiple types [RCV000328808] Chr1:16124855 [GRCh38]
Chr1:16451350 [GRCh37]
Chr1:1p36.13
benign|uncertain significance
NM_004431.5(EPHA2):c.*714G>A single nucleotide variant Cataract 6, multiple types [RCV000396328] Chr1:16124501 [GRCh38]
Chr1:16450996 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.2826-9G>A single nucleotide variant Cataract 6, multiple types [RCV000644433]|not provided [RCV000399746] Chr1:16125329 [GRCh38]
Chr1:16451824 [GRCh37]
Chr1:1p36.13
pathogenic
NM_004431.5(EPHA2):c.*625G>A single nucleotide variant Cataract 6, multiple types [RCV000266908] Chr1:16124590 [GRCh38]
Chr1:16451085 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.124G>A (p.Gly42Ser) single nucleotide variant Cataract 6, multiple types [RCV000320641] Chr1:16150925 [GRCh38]
Chr1:16477420 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.*224G>T single nucleotide variant Cataract 6, multiple types [RCV000389311] Chr1:16124991 [GRCh38]
Chr1:16451486 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.4(EPHA2):c.-152T>C single nucleotide variant Age-related cortical cataract [RCV000389647] Chr1:16156084 [GRCh38]
Chr1:16482579 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1864+15del deletion Age-related cortical cataract [RCV000287294] Chr1:16133466 [GRCh38]
Chr1:16459961 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.*624C>T single nucleotide variant Cataract 6, multiple types [RCV000324403] Chr1:16124591 [GRCh38]
Chr1:16451086 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1312+10del deletion Cataract 6, multiple types [RCV001397903]|not provided [RCV000552300] Chr1:16137843 [GRCh38]
Chr1:16464338 [GRCh37]
Chr1:1p36.13
likely benign
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NM_004431.5(EPHA2):c.1171G>C (p.Gly391Arg) single nucleotide variant Squamous cell lung carcinoma [RCV000443145] Chr1:16137994 [GRCh38]
Chr1:16464489 [GRCh37]
Chr1:1p36.13
likely pathogenic
GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1 copy number loss See cases [RCV000447987] Chr1:13178371..19961858 [GRCh37]
Chr1:1p36.21-36.13
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_004431.5(EPHA2):c.1907C>T (p.Ser636Leu) single nucleotide variant not provided [RCV000498430] Chr1:16133326 [GRCh38]
Chr1:16459821 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_004431.5(EPHA2):c.1500C>T (p.Asp500=) single nucleotide variant Cataract 6, multiple types [RCV000644432] Chr1:16135118 [GRCh38]
Chr1:16461613 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe) single nucleotide variant Cataract 6, multiple types [RCV000538935] Chr1:16138047 [GRCh38]
Chr1:16464542 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1210C>G (p.Pro404Ala) single nucleotide variant Cataract 6, multiple types [RCV000644434] Chr1:16137955 [GRCh38]
Chr1:16464450 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1072G>A (p.Glu358Lys) single nucleotide variant Cataract 6, multiple types [RCV000644435] Chr1:16138093 [GRCh38]
Chr1:16464588 [GRCh37]
Chr1:1p36.13
likely benign|uncertain significance
NM_004431.5(EPHA2):c.2116-9C>T single nucleotide variant Cataract 6, multiple types [RCV000534601] Chr1:16132282 [GRCh38]
Chr1:16458777 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.1407C>T (p.Tyr469=) single nucleotide variant Cataract 6, multiple types [RCV000644438] Chr1:16135676 [GRCh38]
Chr1:16462171 [GRCh37]
Chr1:1p36.13
benign
GRCh37/hg19 1p36.13(chr1:16217579-16496902)x3 copy number gain not provided [RCV000684552] Chr1:16217579..16496902 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1040G>A (p.Arg347His) single nucleotide variant Cataract 6, multiple types [RCV000705461] Chr1:16138125 [GRCh38]
Chr1:16464620 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_004431.5(EPHA2):c.1486G>A (p.Asp496Asn) single nucleotide variant not provided [RCV000871108] Chr1:16135132 [GRCh38]
Chr1:16461627 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.493G>A (p.Val165Met) single nucleotide variant Cataract 6, multiple types [RCV000864302] Chr1:16148708 [GRCh38]
Chr1:16475203 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.1665C>T (p.Gly555=) single nucleotide variant not provided [RCV000927523] Chr1:16134485 [GRCh38]
Chr1:16460980 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.824-7C>T single nucleotide variant Cataract 6, multiple types [RCV000880187] Chr1:16138437 [GRCh38]
Chr1:16464932 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.262C>T (p.Arg88Ter) single nucleotide variant Cataract 6, multiple types [RCV000778193] Chr1:16148939 [GRCh38]
Chr1:16475434 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1682G>A (p.Arg561Lys) single nucleotide variant not provided [RCV000872751] Chr1:16134468 [GRCh38]
Chr1:16460963 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.2100G>A (p.Leu700=) single nucleotide variant not provided [RCV000872714] Chr1:16132393 [GRCh38]
Chr1:16458888 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.1582+1G>A single nucleotide variant Cataract 6, multiple types [RCV000801686] Chr1:16135035 [GRCh38]
Chr1:16461530 [GRCh37]
Chr1:1p36.13
likely pathogenic
GRCh37/hg19 1p36.21-36.13(chr1:16096742-16725355)x1 copy number loss not provided [RCV000847705] Chr1:16096742..16725355 [GRCh37]
Chr1:1p36.21-36.13
uncertain significance
NM_004431.5(EPHA2):c.77G>T (p.Gly26Val) single nucleotide variant Cataract 6, multiple types [RCV000785112] Chr1:16155856 [GRCh38]
Chr1:16482351 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys) single nucleotide variant Cataract 6, multiple types [RCV000802686] Chr1:16129523 [GRCh38]
Chr1:16456018 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2730C>T (p.Ser910=) single nucleotide variant Cataract 6, multiple types [RCV001096361] Chr1:16129529 [GRCh38]
Chr1:16456024 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.1586C>T (p.Pro529Leu) single nucleotide variant Cataract 6, multiple types [RCV001096460] Chr1:16134564 [GRCh38]
Chr1:16461059 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
NM_004431.5(EPHA2):c.600G>C (p.Lys200Asn) single nucleotide variant Cataract 6, multiple types [RCV001096567] Chr1:16148601 [GRCh38]
Chr1:16475096 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.303T>C (p.Thr101=) single nucleotide variant Cataract 6, multiple types [RCV001098304] Chr1:16148898 [GRCh38]
Chr1:16475393 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.205G>A (p.Val69Met) single nucleotide variant Cataract 6, multiple types [RCV000791152] Chr1:16148996 [GRCh38]
Chr1:16475491 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys) single nucleotide variant Cataract 6, multiple types [RCV000815249] Chr1:16133204 [GRCh38]
Chr1:16459699 [GRCh37]
Chr1:1p36.13
uncertain significance
NC_000001.10:g.(?_16460943)_(16482447_?)dup duplication Cataract 6, multiple types [RCV000797488] Chr1:16134448..16155952 [GRCh38]
Chr1:16460943..16482447 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter) single nucleotide variant Cataract 6, multiple types [RCV000824104] Chr1:16148442 [GRCh38]
Chr1:16474937 [GRCh37]
Chr1:1p36.13
pathogenic
NM_004431.5(EPHA2):c.2030G>A (p.Arg677His) single nucleotide variant Cataract 6, multiple types [RCV001099892] Chr1:16133203 [GRCh38]
Chr1:16459698 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.1071C>T (p.Arg357=) single nucleotide variant Cataract 6, multiple types [RCV001099979] Chr1:16138094 [GRCh38]
Chr1:16464589 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.115G>A (p.Gly39Arg) single nucleotide variant Cataract 6, multiple types [RCV001098305] Chr1:16150934 [GRCh38]
Chr1:16477429 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp) single nucleotide variant Cataract 6, multiple types [RCV001223039] Chr1:16138098 [GRCh38]
Chr1:16464593 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1572C>T (p.Phe524=) single nucleotide variant Cataract 6, multiple types [RCV001096462] Chr1:16135046 [GRCh38]
Chr1:16461541 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.524G>A (p.Arg175His) single nucleotide variant Cataract 6, multiple types [RCV001096568] Chr1:16148677 [GRCh38]
Chr1:16475172 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.*273G>A single nucleotide variant Cataract 6, multiple types [RCV001101781] Chr1:16124942 [GRCh38]
Chr1:16451437 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1701C>T (p.Ala567=) single nucleotide variant Cataract 6, multiple types [RCV001101894] Chr1:16133897 [GRCh38]
Chr1:16460392 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2169C>T (p.Ile723=) single nucleotide variant Cataract 6, multiple types [RCV000885569] Chr1:16132220 [GRCh38]
Chr1:16458715 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.2238C>T (p.Leu746=) single nucleotide variant not provided [RCV000872492] Chr1:16132151 [GRCh38]
Chr1:16458646 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.1814C>T (p.Thr605Ile) single nucleotide variant Cataract 6, multiple types [RCV001101893] Chr1:16133531 [GRCh38]
Chr1:16460026 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.1697G>A (p.Arg566His) single nucleotide variant Cataract 6, multiple types [RCV001101895] Chr1:16133901 [GRCh38]
Chr1:16460396 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.890C>T (p.Thr297Met) single nucleotide variant Cataract 6, multiple types [RCV001066684] Chr1:16138364 [GRCh38]
Chr1:16464859 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2697C>T (p.Ser899=) single nucleotide variant Cataract 6, multiple types [RCV001096362] Chr1:16129562 [GRCh38]
Chr1:16456057 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1283G>A (p.Arg428His) single nucleotide variant Cataract 6, multiple types [RCV001227746] Chr1:16137882 [GRCh38]
Chr1:16464377 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2328C>A (p.Gly776=) single nucleotide variant Cataract 6, multiple types [RCV001098108] Chr1:16131868 [GRCh38]
Chr1:16458363 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.717G>A (p.Gly239=) single nucleotide variant Cataract 6, multiple types [RCV001101978] Chr1:16148484 [GRCh38]
Chr1:16474979 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.*543C>T single nucleotide variant Cataract 6, multiple types [RCV001099793] Chr1:16124672 [GRCh38]
Chr1:16451167 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met) single nucleotide variant Cataract 6, multiple types [RCV001099980] Chr1:16138119 [GRCh38]
Chr1:16464614 [GRCh37]
Chr1:1p36.13
benign|conflicting interpretations of pathogenicity
NM_004431.5(EPHA2):c.2476-5G>A single nucleotide variant Cataract 6, multiple types [RCV001096364] Chr1:16130424 [GRCh38]
Chr1:16456919 [GRCh37]
Chr1:1p36.13
benign
NM_004431.5(EPHA2):c.*845G>A single nucleotide variant Cataract 6, multiple types [RCV001098011] Chr1:16124370 [GRCh38]
Chr1:16450865 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2397C>T (p.Asp799=) single nucleotide variant Cataract 6, multiple types [RCV001098107] Chr1:16131799 [GRCh38]
Chr1:16458294 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1421G>A (p.Arg474His) single nucleotide variant Cataract 6, multiple types [RCV001098206] Chr1:16135662 [GRCh38]
Chr1:16462157 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.1364C>T (p.Ser455Phe) single nucleotide variant Cataract 6, multiple types [RCV001098207] Chr1:16135719 [GRCh38]
Chr1:16462214 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.441C>T (p.Pro147=) single nucleotide variant Cataract 6, multiple types [RCV001098303] Chr1:16148760 [GRCh38]
Chr1:16475255 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs) microsatellite Cataract 6, multiple types [RCV001053980] Chr1:16125230..16125231 [GRCh38]
Chr1:16451725..16451726 [GRCh37]
Chr1:1p36.13
pathogenic
NM_004431.5(EPHA2):c.2891del (p.Gly964fs) deletion not provided [RCV001171754] Chr1:16125255 [GRCh38]
Chr1:16451750 [GRCh37]
Chr1:1p36.13
pathogenic
NM_004431.5(EPHA2):c.2671G>A (p.Val891Met) single nucleotide variant Cataract 6, multiple types [RCV001096363] Chr1:16129588 [GRCh38]
Chr1:16456083 [GRCh37]
Chr1:1p36.13
likely benign
NM_004431.5(EPHA2):c.1583C>G (p.Ser528Cys) single nucleotide variant Cataract 6, multiple types [RCV001096461] Chr1:16134567 [GRCh38]
Chr1:16461062 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.962C>T (p.Ala321Val) single nucleotide variant Cataract 6, multiple types [RCV001101977] Chr1:16138292 [GRCh38]
Chr1:16464787 [GRCh37]
Chr1:1p36.13
uncertain significance
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 copy number loss not provided [RCV001259568] Chr1:16041431..21295864 [GRCh37]
Chr1:1p36.21-36.12
pathogenic
NC_000001.10:g.(?_16460943)_(16482447_?)dup duplication Cataract 6, multiple types [RCV001323162] Chr1:16460943..16482447 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly) single nucleotide variant Cataract 6, multiple types [RCV001340743] Chr1:16132215 [GRCh38]
Chr1:16458710 [GRCh37]
Chr1:1p36.13
uncertain significance
NM_004431.5(EPHA2):c.2326-4G>A single nucleotide variant Cataract 6, multiple types [RCV001417635] Chr1:16131874 [GRCh38]
Chr1:16458369 [GRCh37]
Chr1:1p36.13
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3386 AgrOrtholog
COSMIC EPHA2 COSMIC
Ensembl Genes ENSG00000142627 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000351209 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358432 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.150.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.260 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142627 GTEx
HGNC ID HGNC:3386 ENTREZGENE
Human Proteome Map EPHA2 Human Proteome Map
InterPro Eph_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EphA2_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_rcpt_lig-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM/pointed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_ephrin_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_kinase_rcpt_V_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1969 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1969 ENTREZGENE
OMIM 116600 OMIM
  176946 OMIM
Pfam EphA2_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ephrin_lbd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27818 PharmGKB
PIRSF TyrPK_ephrin_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TYRKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EPH_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECEPTOR_TYR_KIN_V_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RECEPTOR_TYR_KIN_V_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EPH_lbd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZA8 ENTREZGENE, UniProtKB/TrEMBL
  EPHA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8IZL0_HUMAN UniProtKB/TrEMBL
  Q96HF4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B5A968 UniProtKB/Swiss-Prot
  Q8N3Z2 UniProtKB/Swiss-Prot