PROC (protein C, inactivator of coagulation factors Va and VIIIa) - Rat Genome Database

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Gene: PROC (protein C, inactivator of coagulation factors Va and VIIIa) Homo sapiens
Analyze
Symbol: PROC
Name: protein C, inactivator of coagulation factors Va and VIIIa
RGD ID: 737321
HGNC Page HGNC
Description: Enables serine-type endopeptidase activity. Involved in several processes, including negative regulation of coagulation; negative regulation of inflammatory response; and positive regulation of establishment of endothelial barrier. Located in Golgi apparatus and endoplasmic reticulum. Implicated in several diseases, including antiphospholipid syndrome; artery disease (multiple); placental abruption; thrombophilia (multiple); and toxic shock syndrome. Biomarker of disseminated intravascular coagulation; myocardial infarction; osteonecrosis; pulmonary embolism; and thrombotic thrombocytopenic purpura.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: activated protein C; anticoagulant protein C; APC; autoprothrombin IIA; blood coagulation factor XIV; PC; prepro-protein C; PROC1; protein c; THPH3; THPH4; type I protein C; vitamin K-dependent protein C
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: PROC (Gene ID: 5624) and APC (Gene ID: 324) loci share the APC symbol/alias in common. [08 Feb 2019]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2127,418,427 - 127,429,242 (+)EnsemblGRCh38hg38GRCh38
GRCh382127,418,143 - 127,429,246 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372128,176,003 - 128,186,818 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362127,892,487 - 127,903,288 (+)NCBINCBI36hg18NCBI36
Build 342127,892,245 - 127,903,048NCBI
Celera2121,487,217 - 121,498,043 (+)NCBI
Cytogenetic Map2q14.3NCBI
HuRef2120,483,060 - 120,493,885 (+)NCBIHuRef
CHM1_12128,180,576 - 128,191,401 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3-chloropropane-1,2-diol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
amiodarone  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
benzbromarone  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clomipramine  (EXP)
clozapine  (EXP)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (ISO)
desogestrel  (EXP)
dextran sulfate  (ISO)
dienogest  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
flutamide  (ISO)
fonofos  (EXP)
furan  (ISO)
genistein  (ISO)
gestodene  (EXP)
heparin  (EXP)
L-ethionine  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (ISO)
manganese(II) chloride  (ISO)
methylmercury(1+)  (ISO)
N-nitrosodiethylamine  (ISO)
norethisterone  (EXP)
norgestimate  (EXP)
O-methyleugenol  (EXP)
omeprazole  (ISO)
paracetamol  (EXP)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
tamoxifen  (EXP)
terbufos  (EXP)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vinorelbine  (EXP)
warfarin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Arachchillage DR, etal., J Thromb Haemost. 2014 Nov;12(11):1801-9. doi: 10.1111/jth.12722. Epub 2014 Oct 3.
2. Berg LP, etal., Hum Mol Genet. 1994 Dec;3(12):2147-52.
3. Bouazza Y, etal., Intensive Care Med. 2011 Nov;37(11):1857-64. doi: 10.1007/s00134-011-2327-9. Epub 2011 Aug 18.
4. Bouwens EA, etal., J Thromb Haemost. 2013 Jun;11 Suppl 1:242-53. doi: 10.1111/jth.12247.
5. Chen CM, etal., Crit Care Med. 2006 Jul;34(7):1960-6.
6. Chesebro BB, etal., Shock. 2009 Dec;32(6):659-65. doi: 10.1097/SHK.0b013e3181a5a632.
7. de Boer JD, etal., Eur Respir J. 2015 Dec;46(6):1636-44. doi: 10.1183/13993003.00459-2015. Epub 2015 Sep 17.
8. Du ZJ, etal., Invest Ophthalmol Vis Sci. 2011 Feb 23;52(2):987-93. doi: 10.1167/iovs.10-5557.
9. Dubniks M and Grande PO, Acta Anaesthesiol Scand. 2008 Mar;52(3):381-7. doi: 10.1111/j.1399-6576.2007.01532.x. Epub 2008 Jan 16.
10. Folsom AR, etal., Arterioscler Thromb Vasc Biol. 2002 Jun 1;22(6):1018-22.
11. Gandrille S, etal., Thromb Haemost. 1993 Nov 15;70(5):747-52.
12. GOA_HUMAN data from the GO Consortium
13. Gupta A, etal., J Am Soc Nephrol. 2009 Feb;20(2):267-77. doi: 10.1681/ASN.2008030294. Epub 2008 Dec 17.
14. Heuer JG, etal., Crit Care Med. 2004 Jul;32(7):1570-8.
15. Hirayama S, etal., J Heart Lung Transplant. 2009 Nov;28(11):1180-4. doi: 10.1016/j.healun.2009.06.026. Epub 2009 Sep 26.
16. Hirose K, etal., Ann Surg. 2000 Aug;232(2):272-80.
17. Ilmakunnas M, etal., Transplantation. 2003 Feb 27;75(4):467-72.
18. Isobe H, etal., J Thromb Haemost. 2004 Feb;2(2):313-20.
19. Jalbert LR, etal., J Clin Invest. 1998 Oct 15;102(8):1481-8.
20. Kau JH, etal., J Biomed Sci. 2012 Nov 21;19:98. doi: 10.1186/1423-0127-19-98.
21. Kim HJ, etal., Haematologica. 2014 Mar;99(3):561-9. doi: 10.3324/haematol.2013.092023. Epub 2013 Oct 25.
22. Knoll B, etal., Thromb Res. 2001 Jul 1;103(1):3-8.
23. Kurioka T, etal., Brain Res. 2014 Oct 2;1583:201-10. doi: 10.1016/j.brainres.2014.07.052. Epub 2014 Aug 7.
24. Kuriyama N, etal., Liver Int. 2009 Feb;29(2):299-307. doi: 10.1111/j.1478-3231.2008.01796.x. Epub 2008 May 26.
25. Lind B, etal., Blood. 1993 Oct 15;82(8):2423-32.
26. Lindoff C, etal., Am J Obstet Gynecol. 1997 Feb;176(2):457-60.
27. Liu H, etal., Gene. 2015 May 25;563(1):35-40. doi: 10.1016/j.gene.2015.03.002. Epub 2015 Mar 4.
28. Moore CC, etal., J Surg Res. 2013 Jun 1;182(1):116-26. doi: 10.1016/j.jss.2012.07.063. Epub 2012 Aug 17.
29. Norris LA, Best Pract Res Clin Obstet Gynaecol. 2003 Jun;17(3):369-83.
30. OMIM Disease Annotation Pipeline
31. Ping C, etal., Dig Dis Sci. 2010 Jun;55(6):1599-609. doi: 10.1007/s10620-009-0909-y. Epub 2009 Aug 13.
32. Pipeline to import KEGG annotations from KEGG into RGD
33. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
34. RGD automated import pipeline for gene-chemical interactions
35. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
36. Robriquet L, etal., Respir Res. 2006 Mar 22;7:41.
37. Romeo G, etal., Proc Natl Acad Sci U S A. 1987 May;84(9):2829-32.
38. Safdar H, etal., Blood. 2013 May 23;121(21):4413-6. doi: 10.1182/blood-2012-11-465674. Epub 2013 Apr 2.
39. Schoots IG, etal., Crit Care Med. 2004 Jun;32(6):1375-83.
40. Soria JM, etal., Blood Coagul Fibrinolysis. 1996 Jan;7(1):15-23.
41. Sun W, etal., Int Orthop. 2006 Jun;30(3):143-6. doi: 10.1007/s00264-005-0067-6. Epub 2006 Mar 18.
42. Sun W, etal., Zhonghua Yi Xue Za Zhi. 2006 Feb 21;86(7):442-5.
43. Tang L, etal., PLoS One. 2012;7(4):e35773. doi: 10.1371/journal.pone.0035773. Epub 2012 Apr 24.
44. Teke Z, etal., Am J Surg. 2008 Jun;195(6):861-73. doi: 10.1016/j.amjsurg.2007.06.025.
45. Tsay W and Shen MC, Am J Hematol. 2004 May;76(1):8-13.
46. Wang Y, etal., Stroke. 2013 Dec;44(12):3529-36. doi: 10.1161/STROKEAHA.113.003350. Epub 2013 Oct 24.
47. Watanabe R, etal., Am J Hematol. 2000 Sep;65(1):35-40.
48. Wiener-Megnagi Z, etal., Am J Obstet Gynecol. 1998 Dec;179(6 Pt 1):1565-7.
49. Xu J, etal., J Thromb Haemost. 2009 May;7(5):851-6. doi: 10.1111/j.1538-7836.2009.03333.x. Epub 2009 Mar 5.
50. Yamashita T, etal., Thromb Res. 1994 Jul 1;75(1):33-40.
51. Younis JS, etal., J Assist Reprod Genet. 2014 Jan;31(1):101-7. doi: 10.1007/s10815-013-0131-x. Epub 2013 Nov 6.
Additional References at PubMed
PMID:468991   PMID:1270437   PMID:1290170   PMID:1301954   PMID:1301959   PMID:1347706   PMID:1433913   PMID:1469096   PMID:1498334   PMID:1511988   PMID:1511989   PMID:1544894  
PMID:1593215   PMID:1611081   PMID:1615482   PMID:1694179   PMID:1761551   PMID:1868249   PMID:1939075   PMID:2033065   PMID:2105310   PMID:2461936   PMID:2538457   PMID:2544585  
PMID:2551064   PMID:2602169   PMID:2912888   PMID:2991859   PMID:2991887   PMID:3185623   PMID:3427056   PMID:3511471   PMID:3643793   PMID:6572939   PMID:6589623   PMID:7479820  
PMID:7548163   PMID:7605880   PMID:7792728   PMID:7841323   PMID:7841324   PMID:7865674   PMID:7878626   PMID:7913773   PMID:7919373   PMID:7974343   PMID:7989361   PMID:8003977  
PMID:8218861   PMID:8292730   PMID:8324221   PMID:8398832   PMID:8446940   PMID:8477066   PMID:8499565   PMID:8499568   PMID:8537329   PMID:8829639   PMID:8889548   PMID:8945631  
PMID:8947506   PMID:9003757   PMID:9108399   PMID:9252393   PMID:9334197   PMID:9395524   PMID:9683579   PMID:9798967   PMID:10026263   PMID:10649502   PMID:10681521   PMID:11099506  
PMID:11106601   PMID:11123896   PMID:11380450   PMID:11686318   PMID:11761087   PMID:11994010   PMID:12029084   PMID:12052963   PMID:12063259   PMID:12091344   PMID:12091346   PMID:12193972  
PMID:12195699   PMID:12200374   PMID:12407115   PMID:12477932   PMID:12482406   PMID:12540965   PMID:12563316   PMID:12588872   PMID:12609838   PMID:12871399   PMID:12960605   PMID:14517747  
PMID:14660667   PMID:14675098   PMID:14718574   PMID:14961149   PMID:14976057   PMID:15005336   PMID:15116250   PMID:15178554   PMID:15248212   PMID:15308562   PMID:15319291   PMID:15337738  
PMID:15486064   PMID:15489334   PMID:15505101   PMID:15516929   PMID:15582990   PMID:15634335   PMID:15665002   PMID:15670041   PMID:15705565   PMID:15710622   PMID:15769747   PMID:15841323  
PMID:15860736   PMID:15978566   PMID:16095499   PMID:16105054   PMID:16113785   PMID:16113807   PMID:16113841   PMID:16146761   PMID:16246255   PMID:16335952   PMID:16344560   PMID:16418283  
PMID:16420659   PMID:16601829   PMID:16607073   PMID:16712791   PMID:16765424   PMID:16867987   PMID:16887970   PMID:16935856   PMID:17048007   PMID:17054378   PMID:17080006   PMID:17107352  
PMID:17170365   PMID:17254565   PMID:17255099   PMID:17284699   PMID:17343367   PMID:17549291   PMID:17557119   PMID:17569089   PMID:17603240   PMID:17646160   PMID:17649706   PMID:17677000  
PMID:17704111   PMID:17849052   PMID:17890957   PMID:17932312   PMID:17982464   PMID:18029348   PMID:18045665   PMID:18089851   PMID:18160601   PMID:18184931   PMID:18198180   PMID:18247057  
PMID:18329782   PMID:18376272   PMID:18424361   PMID:18424440   PMID:18451327   PMID:18457995   PMID:18489431   PMID:18496716   PMID:18521487   PMID:18573519   PMID:18612533   PMID:18680534  
PMID:18680736   PMID:18702832   PMID:18768782   PMID:18779332   PMID:18824642   PMID:18953177   PMID:18954896   PMID:18974842   PMID:19004141   PMID:19052924   PMID:19116273   PMID:19129726  
PMID:19132190   PMID:19190829   PMID:19244160   PMID:19244161   PMID:19248107   PMID:19279234   PMID:19350118   PMID:19350130   PMID:19373522   PMID:19404546   PMID:19506951   PMID:19535131  
PMID:19546541   PMID:19587380   PMID:19625989   PMID:19644401   PMID:19682239   PMID:19686413   PMID:19691480   PMID:19765701   PMID:19774219   PMID:19794411   PMID:19874463   PMID:19892996  
PMID:19913121   PMID:19922983   PMID:19924026   PMID:19958090   PMID:20066740   PMID:20077116   PMID:20127387   PMID:20128871   PMID:20156643   PMID:20174758   PMID:20180321   PMID:20187890  
PMID:20334530   PMID:20404340   PMID:20409682   PMID:20452482   PMID:20485444   PMID:20492471   PMID:20499136   PMID:20501981   PMID:20628086   PMID:20664913   PMID:20673868   PMID:20675283  
PMID:20707712   PMID:20802025   PMID:20815936   PMID:20873219   PMID:20881312   PMID:21044954   PMID:21173154   PMID:21176144   PMID:21228323   PMID:21392254   PMID:21430357   PMID:21474669  
PMID:21486865   PMID:21569220   PMID:21575129   PMID:21627595   PMID:21777953   PMID:21822632   PMID:21826371   PMID:21873635   PMID:21900206   PMID:21901152   PMID:22106258   PMID:22109555  
PMID:22167755   PMID:22168450   PMID:22236035   PMID:22236082   PMID:22245244   PMID:22371115   PMID:22398431   PMID:22425321   PMID:22443383   PMID:22447930   PMID:22477541   PMID:22531345  
PMID:22535660   PMID:22576310   PMID:22627591   PMID:22664011   PMID:22682140   PMID:22690042   PMID:22750541   PMID:22817391   PMID:22918506   PMID:22944127   PMID:22951146   PMID:22964764  
PMID:22976599   PMID:23174622   PMID:23224054   PMID:23312776   PMID:23339473   PMID:23377316   PMID:23387557   PMID:23389250   PMID:23412516   PMID:23480827   PMID:23484147   PMID:23580615  
PMID:23879866   PMID:24051141   PMID:24096826   PMID:24115609   PMID:24158116   PMID:24177324   PMID:24233386   PMID:24251463   PMID:24410881   PMID:24660539   PMID:24759138   PMID:24816905  
PMID:24911457   PMID:24921658   PMID:24951429   PMID:25115555   PMID:25149909   PMID:25376901   PMID:25586317   PMID:25643747   PMID:25651845   PMID:25667200   PMID:25730025   PMID:25790110  
PMID:25879167   PMID:26082331   PMID:26250584   PMID:26354831   PMID:26552309   PMID:26663133   PMID:26800564   PMID:27172833   PMID:27215212   PMID:27345772   PMID:27456888   PMID:27517348  
PMID:27561318   PMID:27794481   PMID:27882376   PMID:28082259   PMID:28111891   PMID:28174134   PMID:28186585   PMID:28211163   PMID:28294177   PMID:28376316   PMID:28405673   PMID:28408624  
PMID:28468828   PMID:28514442   PMID:28607330   PMID:28834159   PMID:28861852   PMID:29218739   PMID:29303701   PMID:29363996   PMID:29890521   PMID:30021884   PMID:30159948   PMID:30865333  
PMID:31142255   PMID:31254973   PMID:31338992   PMID:31399531   PMID:31680443   PMID:31821907   PMID:32296183   PMID:32781781   PMID:32833261   PMID:32924112   PMID:32964666   PMID:33812436  


Genomics

Comparative Map Data
PROC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2127,418,427 - 127,429,242 (+)EnsemblGRCh38hg38GRCh38
GRCh382127,418,143 - 127,429,246 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372128,176,003 - 128,186,818 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362127,892,487 - 127,903,288 (+)NCBINCBI36hg18NCBI36
Build 342127,892,245 - 127,903,048NCBI
Celera2121,487,217 - 121,498,043 (+)NCBI
Cytogenetic Map2q14.3NCBI
HuRef2120,483,060 - 120,493,885 (+)NCBIHuRef
CHM1_12128,180,576 - 128,191,401 (+)NCBICHM1_1
Proc
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391832,256,179 - 32,272,623 (-)NCBIGRCm39mm39
GRCm39 Ensembl1832,256,179 - 32,272,623 (-)Ensembl
GRCm381832,123,126 - 32,139,570 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1832,123,126 - 32,139,570 (-)EnsemblGRCm38mm10GRCm38
MGSCv371832,282,780 - 32,299,224 (-)NCBIGRCm37mm9NCBIm37
MGSCv361832,266,137 - 32,278,949 (-)NCBImm8
Celera1832,604,740 - 32,621,169 (-)NCBICelera
Cytogenetic Map18B1NCBI
Proc
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21823,764,367 - 23,774,816 (-)NCBImRatBN7.2
Rnor_6.0 Ensembl1824,918,398 - 24,929,091 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01824,918,402 - 24,928,822 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01824,633,206 - 24,643,623 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41824,563,368 - 24,573,715 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11824,590,014 - 24,600,361 (-)NCBI
Celera1823,516,361 - 23,526,709 (-)NCBICelera
Cytogenetic Map18p12NCBI
Proc
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554593,094,120 - 3,104,135 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554593,097,229 - 3,105,566 (-)NCBIChiLan1.0ChiLan1.0
PROC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B128,083,794 - 128,094,625 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B128,083,794 - 128,094,625 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B32,846,899 - 32,859,060 (-)NCBIMhudiblu_PPA_v0panPan3
PROC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11923,173,626 - 23,183,634 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1923,173,635 - 23,183,563 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1923,421,177 - 23,431,114 (-)NCBI
ROS_Cfam_1.01924,500,225 - 24,510,240 (-)NCBI
UMICH_Zoey_3.11923,203,858 - 23,213,794 (-)NCBI
UNSW_CanFamBas_1.01923,398,248 - 23,408,180 (-)NCBI
UU_Cfam_GSD_1.01924,530,694 - 24,540,633 (-)NCBI
Dog Cytomap19q21-q22NCBI
Proc
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530397,765,920 - 97,775,831 (+)NCBI
SpeTri2.0NW_00493646943,841,989 - 43,850,322 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PROC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1525,032,622 - 25,056,595 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11525,043,543 - 25,054,310 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21528,724,914 - 28,735,638 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PROC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1102,789,227 - 2,799,783 (-)NCBI
ChlSab1.1 Ensembl102,789,277 - 2,799,531 (-)Ensembl
Vero_WHO_p1.0NW_02366606119,959,230 - 19,968,598 (+)NCBI
Proc
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473213,915,361 - 13,922,182 (+)NCBI

Position Markers
GDB:176978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,185,270 - 128,185,570UniSTSGRCh37
Build 362127,901,740 - 127,902,040RGDNCBI36
Celera2121,496,491 - 121,496,791RGD
Cytogenetic Map2q13-q14UniSTS
HuRef2120,492,333 - 120,492,633UniSTS
GDB:178362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,185,864 - 128,186,608UniSTSGRCh37
Build 362127,902,334 - 127,903,078RGDNCBI36
Celera2121,497,085 - 121,497,829RGD
Cytogenetic Map2q13-q14UniSTS
HuRef2120,492,927 - 120,493,671UniSTS
GDB:181257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,186,658 - 128,187,018UniSTSGRCh37
Build 362127,903,128 - 127,903,488RGDNCBI36
Celera2121,497,879 - 121,498,239RGD
Cytogenetic Map2q13-q14UniSTS
HuRef2120,493,721 - 120,494,081UniSTS
GDB:181584  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,184,656 - 128,184,908UniSTSGRCh37
Build 362127,901,126 - 127,901,378RGDNCBI36
Celera2121,495,877 - 121,496,129RGD
Cytogenetic Map2q13-q14UniSTS
HuRef2120,491,719 - 120,491,971UniSTS
GDB:186843  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,184,606 - 128,184,850UniSTSGRCh37
Build 362127,901,076 - 127,901,320RGDNCBI36
Celera2121,495,827 - 121,496,071RGD
Cytogenetic Map2q13-q14UniSTS
HuRef2120,491,669 - 120,491,913UniSTS
RH70647  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,175,868 - 128,176,064UniSTSGRCh37
Build 362127,892,338 - 127,892,534RGDNCBI36
Celera2121,487,089 - 121,487,285RGD
Cytogenetic Map2q13-q14UniSTS
HuRef2120,482,932 - 120,483,128UniSTS
GeneMap99-GB4 RH Map2456.31UniSTS
NCBI RH Map2993.5UniSTS
D2S2639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372128,186,583 - 128,186,685UniSTSGRCh37
Build 362127,903,053 - 127,903,155RGDNCBI36
Celera2121,497,804 - 121,497,906RGD
Cytogenetic Map2q13-q14UniSTS
HuRef2120,493,646 - 120,493,748UniSTS
Whitehead-YAC Contig Map2 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3782
Count of miRNA genes:829
Interacting mature miRNAs:1013
Transcripts:ENST00000234071, ENST00000402125, ENST00000409048, ENST00000419985, ENST00000422777, ENST00000427769, ENST00000429925, ENST00000431364, ENST00000442644, ENST00000453608, ENST00000464089, ENST00000474030
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 adipose tissue appendage entire extraembryonic component
High
Medium 8 1 436 436 1 437 1 1 93 17 20 1 2
Low 887 932 327 27 616 23 741 69 1270 221 471 531 15 35 485
Below cutoff 1511 1971 936 155 1029 5 3483 2028 2409 89 946 1034 152 1117 2250 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB083690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB083700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB086849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB086850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB086851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB086852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF378903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY348553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY348554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY454079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM975043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB113383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ757487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ821348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS355172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA642156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM997828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM997830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX030036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  K02059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC027927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC030234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S50739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S51769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S55227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S58668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X02750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000234071   ⟹   ENSP00000234071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,418,427 - 127,429,242 (+)Ensembl
RefSeq Acc Id: ENST00000402125   ⟹   ENSP00000384225
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,423,289 - 127,429,015 (+)Ensembl
RefSeq Acc Id: ENST00000409048   ⟹   ENSP00000386679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,419,882 - 127,428,983 (+)Ensembl
RefSeq Acc Id: ENST00000419985   ⟹   ENSP00000392606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,418,427 - 127,423,223 (+)Ensembl
RefSeq Acc Id: ENST00000427769   ⟹   ENSP00000406295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,419,693 - 127,423,119 (+)Ensembl
RefSeq Acc Id: ENST00000429925   ⟹   ENSP00000412697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,418,428 - 127,423,150 (+)Ensembl
RefSeq Acc Id: ENST00000431364   ⟹   ENSP00000391220
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,419,697 - 127,423,126 (+)Ensembl
RefSeq Acc Id: ENST00000442644   ⟹   ENSP00000411241
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,418,439 - 127,426,131 (+)Ensembl
RefSeq Acc Id: ENST00000464089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,423,288 - 127,426,526 (+)Ensembl
RefSeq Acc Id: ENST00000474030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2127,418,427 - 127,423,097 (+)Ensembl
RefSeq Acc Id: NM_000312   ⟹   NP_000303
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
GRCh372128,175,996 - 128,186,822 (+)ENTREZGENE
Build 362127,892,487 - 127,903,288 (+)NCBI Archive
HuRef2120,483,060 - 120,493,885 (+)ENTREZGENE
CHM1_12128,180,576 - 128,191,401 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001375602   ⟹   NP_001362531
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375603   ⟹   NP_001362532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375604   ⟹   NP_001362533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375605   ⟹   NP_001362534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375606   ⟹   NP_001362535
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375607   ⟹   NP_001362536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375608   ⟹   NP_001362537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375609   ⟹   NP_001362538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375610   ⟹   NP_001362539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375611   ⟹   NP_001362540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,427 - 127,429,242 (+)NCBI
RefSeq Acc Id: NM_001375613   ⟹   NP_001362542
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,419,697 - 127,429,242 (+)NCBI
RefSeq Acc Id: XM_017004505   ⟹   XP_016859994
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,221 - 127,429,246 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453002   ⟹   XP_024308770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,143 - 127,429,246 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453003   ⟹   XP_024308771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,392 - 127,429,246 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000303 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362531 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362532 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362533 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362534 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362535 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362536 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362537 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362538 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362540 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362542 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859994 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308770 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308771 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60164 (Get FASTA)   NCBI Sequence Viewer  
  AAA60165 (Get FASTA)   NCBI Sequence Viewer  
  AAA60166 (Get FASTA)   NCBI Sequence Viewer  
  AAB24150 (Get FASTA)   NCBI Sequence Viewer  
  AAB24651 (Get FASTA)   NCBI Sequence Viewer  
  AAB25410 (Get FASTA)   NCBI Sequence Viewer  
  AAB26335 (Get FASTA)   NCBI Sequence Viewer  
  AAB31410 (Get FASTA)   NCBI Sequence Viewer  
  AAH34377 (Get FASTA)   NCBI Sequence Viewer  
  AAK56377 (Get FASTA)   NCBI Sequence Viewer  
  AAQ24849 (Get FASTA)   NCBI Sequence Viewer  
  AAQ24850 (Get FASTA)   NCBI Sequence Viewer  
  AAR23427 (Get FASTA)   NCBI Sequence Viewer  
  AAY15044 (Get FASTA)   NCBI Sequence Viewer  
  AFO53522 (Get FASTA)   NCBI Sequence Viewer  
  BAC21165 (Get FASTA)   NCBI Sequence Viewer  
  BAC21166 (Get FASTA)   NCBI Sequence Viewer  
  BAC21167 (Get FASTA)   NCBI Sequence Viewer  
  BAC21168 (Get FASTA)   NCBI Sequence Viewer  
  BAC21169 (Get FASTA)   NCBI Sequence Viewer  
  BAC21170 (Get FASTA)   NCBI Sequence Viewer  
  BAC21171 (Get FASTA)   NCBI Sequence Viewer  
  BAC21172 (Get FASTA)   NCBI Sequence Viewer  
  BAC53629 (Get FASTA)   NCBI Sequence Viewer  
  BAC53630 (Get FASTA)   NCBI Sequence Viewer  
  BAC53631 (Get FASTA)   NCBI Sequence Viewer  
  BAC54280 (Get FASTA)   NCBI Sequence Viewer  
  BAG60540 (Get FASTA)   NCBI Sequence Viewer  
  BAG60665 (Get FASTA)   NCBI Sequence Viewer  
  BAG60669 (Get FASTA)   NCBI Sequence Viewer  
  BAG64736 (Get FASTA)   NCBI Sequence Viewer  
  BAS04461 (Get FASTA)   NCBI Sequence Viewer  
  CAA26528 (Get FASTA)   NCBI Sequence Viewer  
  CAF32600 (Get FASTA)   NCBI Sequence Viewer  
  CAG34344 (Get FASTA)   NCBI Sequence Viewer  
  CAL24228 (Get FASTA)   NCBI Sequence Viewer  
  CAX30697 (Get FASTA)   NCBI Sequence Viewer  
  CAX30698 (Get FASTA)   NCBI Sequence Viewer  
  EAW95320 (Get FASTA)   NCBI Sequence Viewer  
  P04070 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000303   ⟸   NM_000312
- Peptide Label: isoform 10 preproprotein
- UniProtKB: P04070 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859994   ⟸   XM_017004505
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308770   ⟸   XM_024453002
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308771   ⟸   XM_024453003
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001362540   ⟸   NM_001375611
- Peptide Label: isoform 10 preproprotein
RefSeq Acc Id: NP_001362531   ⟸   NM_001375602
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001362536   ⟸   NM_001375607
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001362534   ⟸   NM_001375605
- Peptide Label: isoform 5 preproprotein
RefSeq Acc Id: NP_001362537   ⟸   NM_001375608
- Peptide Label: isoform 9 precursor
RefSeq Acc Id: NP_001362539   ⟸   NM_001375610
- Peptide Label: isoform 7 preproprotein
RefSeq Acc Id: NP_001362535   ⟸   NM_001375606
- Peptide Label: isoform 3 precursor
RefSeq Acc Id: NP_001362532   ⟸   NM_001375603
- Peptide Label: isoform 4 precursor
RefSeq Acc Id: NP_001362533   ⟸   NM_001375604
- Peptide Label: isoform 6 precursor
RefSeq Acc Id: NP_001362538   ⟸   NM_001375609
- Peptide Label: isoform 8
RefSeq Acc Id: NP_001362542   ⟸   NM_001375613
- Peptide Label: isoform 10 preproprotein
RefSeq Acc Id: ENSP00000406295   ⟸   ENST00000427769
RefSeq Acc Id: ENSP00000412697   ⟸   ENST00000429925
RefSeq Acc Id: ENSP00000384225   ⟸   ENST00000402125
RefSeq Acc Id: ENSP00000411241   ⟸   ENST00000442644
RefSeq Acc Id: ENSP00000392606   ⟸   ENST00000419985
RefSeq Acc Id: ENSP00000234071   ⟸   ENST00000234071
RefSeq Acc Id: ENSP00000391220   ⟸   ENST00000431364
RefSeq Acc Id: ENSP00000386679   ⟸   ENST00000409048
Protein Domains
EGF-like   Gla   Peptidase S1

Promoters
RGD ID:6861484
Promoter ID:EPDNEW_H3907
Type:multiple initiation site
Name:PROC_1
Description:protein C, inactivator of coagulation factors Va and VIIIa
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3908  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,418,432 - 127,418,492EPDNEW
RGD ID:6861486
Promoter ID:EPDNEW_H3908
Type:initiation region
Name:PROC_2
Description:protein C, inactivator of coagulation factors Va and VIIIa
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3907  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382127,419,697 - 127,419,757EPDNEW
RGD ID:6849868
Promoter ID:EP32001
Type:single initiation site
Name:HS_PROC
Description:Protein C.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:liver
Experiment Methods:Sequencing of a full-length cDNA; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 362127,892,485 - 127,892,545EPD
RGD ID:6797983
Promoter ID:HG_KWN:34858
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   NB4
Transcripts:OTTHUMT00000331026,   OTTHUMT00000331027
Position:
Human AssemblyChrPosition (strand)Source
Build 362127,897,086 - 127,897,732 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000312.3(PROC):c.71-17C>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001089427]|not provided [RCV000530308] Chr2:127421266 [GRCh38]
Chr2:128178842 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.3(PROC):c.1042C>T (p.Arg348Ter) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000690] Chr2:127428602 [GRCh38]
Chr2:128186178 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.1332G>C (p.Trp444Cys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000691] Chr2:127428892 [GRCh38]
Chr2:128186468 [GRCh37]
Chr2:2q14.3
pathogenic
PROC, ARG12TRP variation Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000692] Chr2:2q13-q14 pathogenic
NM_000312.3(PROC):c.631C>T (p.Arg211Trp) single nucleotide variant Reduced protein C activity [RCV000851836]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000693]|Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000694] Chr2:127426180 [GRCh38]
Chr2:128183756 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000312.3(PROC):c.902C>T (p.Ala301Val) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000695] Chr2:127428462 [GRCh38]
Chr2:128186038 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.629C>T (p.Pro210Leu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000778563]|Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000696] Chr2:127426178 [GRCh38]
Chr2:128183754 [GRCh37]
Chr2:2q14.3
pathogenic|uncertain significance
NM_000312.3(PROC):c.925G>A (p.Ala309Thr) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000689442]|Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000697] Chr2:127428485 [GRCh38]
Chr2:128186061 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.1027G>A (p.Gly343Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000698] Chr2:127428587 [GRCh38]
Chr2:128186163 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.185A>C (p.Glu62Ala) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000699] Chr2:127421397 [GRCh38]
Chr2:128178973 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.226G>A (p.Val76Met) single nucleotide variant Abnormal thrombosis [RCV000852081]|Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000700] Chr2:127421438 [GRCh38]
Chr2:128179014 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.1000G>A (p.Gly334Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000195879]|Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000701] Chr2:127428560 [GRCh38]
Chr2:128186136 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000312.3(PROC):c.866C>T (p.Pro289Leu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000702] Chr2:127428426 [GRCh38]
Chr2:128186002 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.658C>T (p.Arg220Trp) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000703] Chr2:127426207 [GRCh38]
Chr2:128183783 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.659G>A (p.Arg220Gln) single nucleotide variant Reduced protein C activity [RCV000852185]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000704] Chr2:127426208 [GRCh38]
Chr2:128183784 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
PROC, 1-BP DEL, 8857G deletion Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000705] Chr2:2q13-q14 pathogenic
NM_000312.3(PROC):c.814C>T (p.Arg272Cys) single nucleotide variant Thromboembolism [RCV000852227]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000706] Chr2:127428374 [GRCh38]
Chr2:128185950 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000312.3(PROC):c.552_553insTT (p.Arg185fs) insertion Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000707] Chr2:127426101..127426102 [GRCh38]
Chr2:128183677..128183678 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.678+9C>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000708] Chr2:127426236 [GRCh38]
Chr2:128183812 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.678G>C (p.Gln226His) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000709] Chr2:127426227 [GRCh38]
Chr2:128183803 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.793C>T (p.Leu265Phe) single nucleotide variant Deep venous thrombosis [RCV000851884]|Reduced protein C activity [RCV000851885]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001132310]|Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000710] Chr2:127427219 [GRCh38]
Chr2:128184795 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic|uncertain significance
NM_000312.3(PROC):c.1335C>G (p.Ile445Met) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000000711] Chr2:127428895 [GRCh38]
Chr2:128186471 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.1015G>A (p.Val339Met) single nucleotide variant Inborn genetic diseases [RCV001266003]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000712] Chr2:127428575 [GRCh38]
Chr2:128186151 [GRCh37]
Chr2:2q14.3
pathogenic
PROC, -14T-C single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000713] Chr2:2q13-q14 pathogenic
NM_000312.3(PROC):c.446A>C (p.His149Pro) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000714] Chr2:127423319 [GRCh38]
Chr2:128180895 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.935C>T (p.Ser312Leu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000000715] Chr2:127428495 [GRCh38]
Chr2:128186071 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3
pathogenic
GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 copy number loss See cases [RCV000054059] Chr2:121824798..128870804 [GRCh38]
Chr2:122582374..129628378 [GRCh37]
Chr2:122298844..129344848 [NCBI36]
Chr2:2q14.3
pathogenic
GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 copy number loss See cases [RCV000054060] Chr2:122324343..128371704 [GRCh38]
Chr2:123081919..129129278 [GRCh37]
Chr2:122798389..128845748 [NCBI36]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.1216A>G (p.Met406Val) single nucleotide variant not provided [RCV000657992] Chr2:127428776 [GRCh38]
Chr2:128186352 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000312.3(PROC):c.125G>A (p.Arg42His) single nucleotide variant Deep venous thrombosis [RCV000851677]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148739] Chr2:127421337 [GRCh38]
Chr2:128178913 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.1201G>A (p.Asp401Asn) single nucleotide variant Reduced protein C activity [RCV000851669]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148740] Chr2:127428761 [GRCh38]
Chr2:128186337 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000312.3(PROC):c.322C>A (p.His108Asn) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148741]|not provided [RCV000997201] Chr2:127423093 [GRCh38]
Chr2:128180669 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.1234G>A (p.Gly412Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148742] Chr2:127428794 [GRCh38]
Chr2:128186370 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.52G>A (p.Gly18Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148743] Chr2:127419994 [GRCh38]
Chr2:128177570 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.160A>T (p.Ser54Cys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148744] Chr2:127421372 [GRCh38]
Chr2:128178948 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.580C>T (p.Arg194Cys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148745]|Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV001270053] Chr2:127426129 [GRCh38]
Chr2:128183705 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.1010C>T (p.Thr337Ile) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148746] Chr2:127428570 [GRCh38]
Chr2:128186146 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.340G>C (p.Gly114Arg) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148747] Chr2:127423111 [GRCh38]
Chr2:128180687 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) single nucleotide variant Reduced protein C activity [RCV000851825]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000148748]|not provided [RCV001090272] Chr2:127426114 [GRCh38]
Chr2:128183690 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 copy number loss See cases [RCV000135455] Chr2:123169989..128460075 [GRCh38]
Chr2:123927565..129217649 [GRCh37]
Chr2:123644035..128934119 [NCBI36]
Chr2:2q14.3
pathogenic
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1
pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 copy number loss See cases [RCV000137467] Chr2:122847356..129545581 [GRCh38]
Chr2:123604932..130303154 [GRCh37]
Chr2:123321402..130019624 [NCBI36]
Chr2:2q14.3-21.1
likely pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 copy number gain See cases [RCV000138369] Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1
uncertain significance
GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 copy number loss See cases [RCV000141584] Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3
pathogenic
NM_000312.3(PROC):c.169C>T (p.Arg57Trp) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000168170]|not provided [RCV000490205] Chr2:127421381 [GRCh38]
Chr2:128178957 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000312.3(PROC):c.678+10G>A single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000391218] Chr2:127426237 [GRCh38]
Chr2:128183813 [GRCh37]
Chr2:2q14.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000312.3(PROC):c.927C>T (p.Ala309=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000405201] Chr2:127428487 [GRCh38]
Chr2:128186063 [GRCh37]
Chr2:2q14.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000312.3(PROC):c.1161T>C (p.Cys387=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000406034] Chr2:127428721 [GRCh38]
Chr2:128186297 [GRCh37]
Chr2:2q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000312.3(PROC):c.400+13G>A single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000273797] Chr2:127423184 [GRCh38]
Chr2:128180760 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000312.3(PROC):c.-21-5C>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000276861]|not provided [RCV000997200] Chr2:127419917 [GRCh38]
Chr2:128177493 [GRCh37]
Chr2:2q14.3
likely benign|uncertain significance
NM_000312.3(PROC):c.630G>A (p.Pro210=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000379881] Chr2:127426179 [GRCh38]
Chr2:128183755 [GRCh37]
Chr2:2q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000312.3(PROC):c.399C>T (p.Arg133=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000368434] Chr2:127423170 [GRCh38]
Chr2:128180746 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000312.3(PROC):c.1107G>A (p.Pro369=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000369880] Chr2:127428667 [GRCh38]
Chr2:128186243 [GRCh37]
Chr2:2q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000312.3(PROC):c.1299C>T (p.Gly433=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000205093]|not provided [RCV001091550] Chr2:127428859 [GRCh38]
Chr2:128186435 [GRCh37]
Chr2:2q14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000312.3(PROC):c.1237A>G (p.Thr413Ala) single nucleotide variant Reduced protein C activity [RCV000851673]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000232324] Chr2:127428797 [GRCh38]
Chr2:128186373 [GRCh37]
Chr2:2q14.3
likely pathogenic|uncertain significance
NM_000312.3(PROC):c.286C>T (p.Pro96Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000226072] Chr2:127423057 [GRCh38]
Chr2:128180633 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.91G>A (p.Glu31Lys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000226874] Chr2:127421303 [GRCh38]
Chr2:128178879 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.891C>T (p.Asp297=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000233040] Chr2:127428451 [GRCh38]
Chr2:128186027 [GRCh37]
Chr2:2q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000312.3(PROC):c.1065C>T (p.Asn355=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000315159] Chr2:127428625 [GRCh38]
Chr2:128186201 [GRCh37]
Chr2:2q14.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000312.3(PROC):c.66T>C (p.Pro22=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000332512] Chr2:127420008 [GRCh38]
Chr2:128177584 [GRCh37]
Chr2:2q14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000312.3(PROC):c.666C>G (p.Asp222Glu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000339693] Chr2:127426215 [GRCh38]
Chr2:128183791 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.-50A>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000298504]|not provided [RCV001357527]|not specified [RCV000246100] Chr2:127418464 [GRCh38]
Chr2:128176040 [GRCh37]
Chr2:2q14.3
benign|likely benign|uncertain significance
NM_000312.3(PROC):c.423G>T (p.Ser141=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000328858]|not specified [RCV000251026] Chr2:127423296 [GRCh38]
Chr2:128180872 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000312.3(PROC):c.768T>C (p.Asp256=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000280967]|not provided [RCV001356271]|not specified [RCV000241792] Chr2:127427194 [GRCh38]
Chr2:128184770 [GRCh37]
Chr2:2q14.3
benign|likely benign|uncertain significance
NM_000312.3(PROC):c.*146T>C single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000271984] Chr2:127429092 [GRCh38]
Chr2:128186668 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.-33C>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000353422] Chr2:127418481 [GRCh38]
Chr2:128176057 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.3(PROC):c.*170G>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000308458] Chr2:127429116 [GRCh38]
Chr2:128186692 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.1043G>A (p.Arg348Gln) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000490417] Chr2:127428603 [GRCh38]
Chr2:128186179 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000312.3(PROC):c.30C>T (p.Phe10=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000526936] Chr2:127419972 [GRCh38]
Chr2:128177548 [GRCh37]
Chr2:2q14.3
benign|conflicting interpretations of pathogenicity
NM_000312.3(PROC):c.*220G>C single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000363170] Chr2:127429166 [GRCh38]
Chr2:128186742 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.1318C>T (p.Arg440Cys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000366599] Chr2:127428878 [GRCh38]
Chr2:128186454 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.602C>T (p.Thr201Ile) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000325296] Chr2:127426151 [GRCh38]
Chr2:128183727 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) microsatellite Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000288890]|not provided [RCV001310433] Chr2:127426121..127426123 [GRCh38]
Chr2:128183697..128183699 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000312.3(PROC):c.-55C>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000396232] Chr2:127418459 [GRCh38]
Chr2:128176035 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.596G>A (p.Arg199Gln) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000551864] Chr2:127426145 [GRCh38]
Chr2:128183721 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.805G>C (p.Asp269His) single nucleotide variant not provided [RCV000766107] Chr2:127428365 [GRCh38]
Chr2:128185941 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.352T>C (p.Phe118Leu) single nucleotide variant Deep venous thrombosis [RCV000851641]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000541810] Chr2:127423123 [GRCh38]
Chr2:128180699 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.1212dup (p.Pro405fs) duplication Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000468802] Chr2:127428766..127428767 [GRCh38]
Chr2:128186342..128186343 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000312.3(PROC):c.811C>T (p.Arg271Trp) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000645701] Chr2:127428371 [GRCh38]
Chr2:128185947 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.238-1G>A single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000645702] Chr2:127422916 [GRCh38]
Chr2:128180492 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.536-6C>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000645703] Chr2:127426079 [GRCh38]
Chr2:128183655 [GRCh37]
Chr2:2q14.3
benign
NM_000312.3(PROC):c.1272G>A (p.Glu424=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001134698]|not provided [RCV000645704] Chr2:127428832 [GRCh38]
Chr2:128186408 [GRCh37]
Chr2:2q14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000312.3(PROC):c.51C>T (p.Ser17=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000645705] Chr2:127419993 [GRCh38]
Chr2:128177569 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.3(PROC):c.1212G>A (p.Gly404=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000645706] Chr2:127428772 [GRCh38]
Chr2:128186348 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.3(PROC):c.1174G>A (p.Gly392Arg) single nucleotide variant not provided [RCV000595447] Chr2:127428734 [GRCh38]
Chr2:128186310 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.799G>A (p.Glu267Lys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000540892] Chr2:127428359 [GRCh38]
Chr2:128185935 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
NM_000312.3(PROC):c.340G>T (p.Gly114Cys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000625577] Chr2:127423111 [GRCh38]
Chr2:128180687 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.534A>G (p.Ala178=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000645699] Chr2:127423407 [GRCh38]
Chr2:128180983 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.548G>T (p.Cys183Phe) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000645700] Chr2:127426097 [GRCh38]
Chr2:128183673 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1 copy number loss See cases [RCV000512348] Chr2:120571363..141627287 [GRCh37]
Chr2:2q14.2-22.1
pathogenic
NM_000312.3(PROC):c.-97_-91delGTTATGG deletion not provided [RCV000657991] Chr2:127418416..127418422 [GRCh38]
Chr2:128175992..128175998 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.1213C>T (p.Pro405Ser) single nucleotide variant not provided [RCV000677123] Chr2:127428773 [GRCh38]
Chr2:128186349 [GRCh37]
Chr2:2q14.3
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_000312.3(PROC):c.156C>G (p.His52Gln) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000686566] Chr2:127421368 [GRCh38]
Chr2:128178944 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.1019C>T (p.Thr340Met) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000702555] Chr2:127428579 [GRCh38]
Chr2:128186155 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.388T>C (p.Phe130Leu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000688378] Chr2:127423159 [GRCh38]
Chr2:128180735 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.970G>A (p.Gly324Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000689216] Chr2:127428530 [GRCh38]
Chr2:128186106 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.1242G>A (p.Trp414Ter) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000702225] Chr2:127428802 [GRCh38]
Chr2:128186378 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.962C>T (p.Pro321Leu) single nucleotide variant Deep venous thrombosis [RCV000851918]|Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000689154] Chr2:127428522 [GRCh38]
Chr2:128186098 [GRCh37]
Chr2:2q14.3
likely pathogenic|uncertain significance
NM_000312.3(PROC):c.1368del (p.Lys457fs) deletion Reduced protein C activity [RCV000851689] Chr2:127428928 [GRCh38]
Chr2:128186504 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.1163C>T (p.Ala388Val) single nucleotide variant Reduced protein C activity [RCV000852001]|Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000984956] Chr2:127428723 [GRCh38]
Chr2:128186299 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000312.3(PROC):c.524G>A (p.Cys175Tyr) single nucleotide variant Reduced protein C activity [RCV000852149] Chr2:127423397 [GRCh38]
Chr2:128180973 [GRCh37]
Chr2:2q14.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_000312.3(PROC):c.1166G>C (p.Gly389Ala) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000761311] Chr2:127428726 [GRCh38]
Chr2:128186302 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.199G>A (p.Glu67Lys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000761310] Chr2:127421411 [GRCh38]
Chr2:128178987 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.4(PROC):c.1111A>G (p.Asn371Asp) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000865274] Chr2:127428671 [GRCh38]
Chr2:128186247 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.969C>T (p.Ser323=) single nucleotide variant not provided [RCV000869082] Chr2:127428529 [GRCh38]
Chr2:128186105 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.1326C>T (p.Leu442=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000877532] Chr2:127428886 [GRCh38]
Chr2:128186462 [GRCh37]
Chr2:2q14.3
likely benign|conflicting interpretations of pathogenicity
NM_000312.3(PROC):c.238-2A>G single nucleotide variant Thromboembolism [RCV000851746] Chr2:127422915 [GRCh38]
Chr2:128180491 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.440G>A (p.Cys147Tyr) single nucleotide variant Reduced protein C activity [RCV000851793] Chr2:127423313 [GRCh38]
Chr2:128180889 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.673T>G (p.Trp225Gly) single nucleotide variant Deep venous thrombosis [RCV000851848] Chr2:127426222 [GRCh38]
Chr2:128183798 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.263-4G>A single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001416063]|not provided [RCV000862891] Chr2:127423030 [GRCh38]
Chr2:128180606 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.900C>T (p.Ile300=) single nucleotide variant not provided [RCV000865927] Chr2:127428460 [GRCh38]
Chr2:128186036 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.300G>A (p.Pro100=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001488987]|not provided [RCV000978830] Chr2:127423071 [GRCh38]
Chr2:128180647 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.924C>T (p.Pro308=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000861331] Chr2:127428484 [GRCh38]
Chr2:128186060 [GRCh37]
Chr2:2q14.3
benign|likely benign
NM_000312.3(PROC):c.400+1G>A single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000818570] Chr2:127423172 [GRCh38]
Chr2:128180748 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.3(PROC):c.889G>C (p.Asp297His) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000821496] Chr2:127428449 [GRCh38]
Chr2:128186025 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.723G>T (p.Val241=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001132308] Chr2:127427149 [GRCh38]
Chr2:128184725 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.-54G>A single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001134594] Chr2:127418460 [GRCh38]
Chr2:128176036 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.70+13C>G single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001134595] Chr2:127420025 [GRCh38]
Chr2:128177601 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.1019C>A (p.Thr340Lys) single nucleotide variant Reduced protein C activity [RCV000851961] Chr2:127428579 [GRCh38]
Chr2:128186155 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.386G>A (p.Arg129His) single nucleotide variant Deep venous thrombosis [RCV000851987]|Deep venous thrombosis [RCV000851988]|not provided [RCV001357357] Chr2:127423157 [GRCh38]
Chr2:128180733 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.325G>T (p.Gly109Cys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV000824240] Chr2:127423096 [GRCh38]
Chr2:128180672 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.462G>A (p.Glu154=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001434853]|not provided [RCV000860624] Chr2:127423335 [GRCh38]
Chr2:128180911 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.1296C>T (p.Tyr432=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001486557]|not provided [RCV000863010] Chr2:127428856 [GRCh38]
Chr2:128186432 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.1248G>T (p.Leu416=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001134697] Chr2:127428808 [GRCh38]
Chr2:128186384 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.*81T>C single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001134700] Chr2:127429027 [GRCh38]
Chr2:128186603 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.660G>A (p.Arg220=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001132307] Chr2:127426209 [GRCh38]
Chr2:128183785 [GRCh37]
Chr2:2q14.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000312.4(PROC):c.730C>T (p.His244Tyr) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001208790]|not provided [RCV000997202] Chr2:127427156 [GRCh38]
Chr2:128184732 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.566G>A (p.Arg189Gln) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001129573] Chr2:127426115 [GRCh38]
Chr2:128183691 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.1331G>A (p.Trp444Ter) single nucleotide variant Reduced protein C activity [RCV000851681] Chr2:127428891 [GRCh38]
Chr2:128186467 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.1378_1379dup (p.Pro461fs) duplication Reduced protein C activity [RCV000851692] Chr2:127428937..127428938 [GRCh38]
Chr2:128186513..128186514 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001202927] Chr2:127428715 [GRCh38]
Chr2:128186291 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.982C>T (p.Arg328Cys) single nucleotide variant Reduced protein C activity [RCV000851922] Chr2:127428542 [GRCh38]
Chr2:128186118 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.4(PROC):c.206C>T (p.Ala69Val) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001238309] Chr2:127421418 [GRCh38]
Chr2:128178994 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.678G>A (p.Gln226=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001219262] Chr2:127426227 [GRCh38]
Chr2:128183803 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.571G>C (p.Glu191Gln) single nucleotide variant Deep venous thrombosis [RCV000851828] Chr2:127426120 [GRCh38]
Chr2:128183696 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.797-2A>T single nucleotide variant Reduced protein C activity [RCV000851888] Chr2:127428355 [GRCh38]
Chr2:128185931 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.1313T>C (p.Val438Ala) single nucleotide variant Reduced protein C activity [RCV000852016] Chr2:127428873 [GRCh38]
Chr2:128186449 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.532G>C (p.Ala178Pro) single nucleotide variant Reduced protein C activity [RCV000852153] Chr2:127423405 [GRCh38]
Chr2:128180981 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.715G>A (p.Gly239Arg) single nucleotide variant Deep venous thrombosis [RCV000852197] Chr2:127427141 [GRCh38]
Chr2:128184717 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.819G>T (p.Trp273Cys) single nucleotide variant Reduced protein C activity [RCV000852231] Chr2:127428379 [GRCh38]
Chr2:128185955 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.3(PROC):c.908T>G (p.Leu303Arg) single nucleotide variant Reduced protein C activity [RCV000852242] Chr2:127428468 [GRCh38]
Chr2:128186044 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.752C>T (p.Ala251Val) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000999470] Chr2:127427178 [GRCh38]
Chr2:128184754 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.76G>A (p.Val26Met) single nucleotide variant Reduced protein C activity [RCV000851876] Chr2:127421288 [GRCh38]
Chr2:128178864 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.3(PROC):c.421T>C (p.Ser141Pro) single nucleotide variant Reduced protein C activity [RCV000852122] Chr2:127423294 [GRCh38]
Chr2:128180870 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.4(PROC):c.888C>T (p.Thr296=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001133238] Chr2:127428448 [GRCh38]
Chr2:128186024 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.785T>C (p.Leu262Pro) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001132309] Chr2:127427211 [GRCh38]
Chr2:128184787 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.60A>G (p.Pro20=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001441158]|not provided [RCV000862322] Chr2:127420002 [GRCh38]
Chr2:128177578 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.113G>A (p.Arg38Gln) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive [RCV000984471] Chr2:127421325 [GRCh38]
Chr2:128178901 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.936G>A (p.Ser312=) single nucleotide variant not provided [RCV000931333] Chr2:127428496 [GRCh38]
Chr2:128186072 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.400+6G>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001129572]|not provided [RCV000861091] Chr2:127423177 [GRCh38]
Chr2:128180753 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.862C>T (p.His288Tyr) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001248804] Chr2:127428422 [GRCh38]
Chr2:128185998 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.4(PROC):c.740G>A (p.Trp247Ter) single nucleotide variant not provided [RCV001090273] Chr2:127427166 [GRCh38]
Chr2:128184742 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.*72C>A single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001134699] Chr2:127429018 [GRCh38]
Chr2:128186594 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.468C>T (p.Gly156=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001446191]|not provided [RCV000934872] Chr2:127423341 [GRCh38]
Chr2:128180917 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.945A>G (p.Ile315Met) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001071097] Chr2:127428505 [GRCh38]
Chr2:128186081 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.282C>T (p.Val94=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001129571] Chr2:127423053 [GRCh38]
Chr2:128180629 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.697AAG[2] (p.Lys235del) microsatellite Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001049740] Chr2:127427123..127427125 [GRCh38]
Chr2:128184699..128184701 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.*152T>C single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001129692] Chr2:127429098 [GRCh38]
Chr2:128186674 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.*176T>C single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001129693] Chr2:127429122 [GRCh38]
Chr2:128186698 [GRCh37]
Chr2:2q14.3
uncertain significance
GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1 copy number loss See cases [RCV001194541] Chr2:122952356..133826358 [GRCh37]
Chr2:2q14.3-21.2
likely pathogenic
NM_000312.4(PROC):c.916G>T (p.Ala306Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001208438] Chr2:127428476 [GRCh38]
Chr2:128186052 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.245T>C (p.Phe82Ser) single nucleotide variant Hereditary angioedema with normal C1Inh [RCV001027424] Chr2:127422924 [GRCh38]
Chr2:128180500 [GRCh37]
Chr2:2q14.3
not provided
NM_000312.4(PROC):c.41G>A (p.Trp14Ter) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001248247] Chr2:127419983 [GRCh38]
Chr2:128177559 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.1333A>C (p.Ile445Leu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001219261] Chr2:127428893 [GRCh38]
Chr2:128186469 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.1241G>C (p.Trp414Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001133239] Chr2:127428801 [GRCh38]
Chr2:128186377 [GRCh37]
Chr2:2q14.3
uncertain significance
NC_000002.12:g.127418364_127418365del deletion not provided [RCV001027532] Chr2:127418363..127418364 [GRCh38]
Chr2:128175939..128175940 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.124C>T (p.Arg42Cys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001379312]|not provided [RCV001200134] Chr2:127421336 [GRCh38]
Chr2:128178912 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000312.4(PROC):c.595C>T (p.Arg199Ter) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001040855]|not provided [RCV001200135] Chr2:127426144 [GRCh38]
Chr2:128183720 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.326_330dup (p.Cys111fs) microsatellite Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001039540] Chr2:127423090..127423091 [GRCh38]
Chr2:128180666..128180667 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.1074C>A (p.Phe358Leu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001063824] Chr2:127428634 [GRCh38]
Chr2:128186210 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) deletion Inborn genetic diseases [RCV001266004] Chr2:127423125..127423142 [GRCh38]
Chr2:128180701..128180718 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.632G>T (p.Arg211Leu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001343833] Chr2:127426181 [GRCh38]
Chr2:128183757 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.400+5G>C single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001270878] Chr2:127423176 [GRCh38]
Chr2:128180752 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.299C>G (p.Pro100Arg) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001296017] Chr2:127423070 [GRCh38]
Chr2:128180646 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.118C>T (p.Arg40Cys) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001347080] Chr2:127421330 [GRCh38]
Chr2:128178906 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.718G>A (p.Ala240Thr) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001353250] Chr2:127427144 [GRCh38]
Chr2:128184720 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.632G>A (p.Arg211Gln) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001353251] Chr2:127426181 [GRCh38]
Chr2:128183757 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.4(PROC):c.1110C>A (p.His370Gln) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001307199] Chr2:127428670 [GRCh38]
Chr2:128186246 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.1120A>G (p.Ser374Gly) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001323593] Chr2:127428680 [GRCh38]
Chr2:128186256 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.479G>C (p.Cys160Ser) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001353253] Chr2:127423352 [GRCh38]
Chr2:128180928 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.205G>A (p.Ala69Thr) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001366397] Chr2:127421417 [GRCh38]
Chr2:128178993 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.132C>T (p.Asn44=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001412749] Chr2:127421344 [GRCh38]
Chr2:128178920 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.400+2T>C single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001353252] Chr2:127423173 [GRCh38]
Chr2:128180749 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.400G>T (p.Glu134Ter) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001387152] Chr2:127423171 [GRCh38]
Chr2:128180747 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.876C>G (p.Ser292Arg) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001491012] Chr2:127428436 [GRCh38]
Chr2:128186012 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.400+9dup duplication Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001521279] Chr2:127423175..127423176 [GRCh38]
Chr2:128180751..128180752 [GRCh37]
Chr2:2q14.3
benign
NM_000312.4(PROC):c.1233C>T (p.His411=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001491798] Chr2:127428793 [GRCh38]
Chr2:128186369 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.1338T>C (p.His446=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001401939] Chr2:127428898 [GRCh38]
Chr2:128186474 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001378201]|not provided [RCV001509161] Chr2:127428666 [GRCh38]
Chr2:128186242 [GRCh37]
Chr2:2q14.3
pathogenic|likely pathogenic
NM_000312.4(PROC):c.702G>A (p.Lys234=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001411052] Chr2:127427128 [GRCh38]
Chr2:128184704 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.70+7C>G single nucleotide variant not provided [RCV001509160] Chr2:127420019 [GRCh38]
Chr2:128177595 [GRCh37]
Chr2:2q14.3
uncertain significance
NM_000312.4(PROC):c.780G>A (p.Lys260=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001504654] Chr2:127427206 [GRCh38]
Chr2:128184782 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.139C>T (p.Leu47=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001485838] Chr2:127421351 [GRCh38]
Chr2:128178927 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.810G>C (p.Leu270=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001451056] Chr2:127428370 [GRCh38]
Chr2:128185946 [GRCh37]
Chr2:2q14.3
likely benign
NC_000002.11:g.128175862C>T single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001509734] Chr2:127418286 [GRCh38]
Chr2:128175862 [GRCh37]
Chr2:2q14.3
benign
NC_000002.11:g.128175875G>A single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001509735] Chr2:127418299 [GRCh38]
Chr2:128175875 [GRCh37]
Chr2:2q14.3
benign
NM_000312.4(PROC):c.528C>T (p.His176=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001486089] Chr2:127423401 [GRCh38]
Chr2:128180977 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.39C>T (p.Thr13=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001406857] Chr2:127419981 [GRCh38]
Chr2:128177557 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.561G>A (p.Trp187Ter) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001380376] Chr2:127426110 [GRCh38]
Chr2:128183686 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.520C>T (p.Gln174Ter) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001387153] Chr2:127423393 [GRCh38]
Chr2:128180969 [GRCh37]
Chr2:2q14.3
pathogenic
NM_000312.4(PROC):c.1099G>A (p.Val367Met) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001378884] Chr2:127428659 [GRCh38]
Chr2:128186235 [GRCh37]
Chr2:2q14.3
likely pathogenic
NM_000312.4(PROC):c.852G>A (p.Glu284=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001430246] Chr2:127428412 [GRCh38]
Chr2:128185988 [GRCh37]
Chr2:2q14.3
likely benign
NM_000312.4(PROC):c.1077C>G (p.Val359=) single nucleotide variant Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant [RCV001424471] Chr2:127428637 [GRCh38]
Chr2:128186213 [GRCh37]
Chr2:2q14.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9451 AgrOrtholog
COSMIC PROC COSMIC
Ensembl Genes ENSG00000115718 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000234071 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384225 UniProtKB/TrEMBL
  ENSP00000386679 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000391220 UniProtKB/TrEMBL
  ENSP00000392606 UniProtKB/TrEMBL
  ENSP00000406295 UniProtKB/TrEMBL
  ENSP00000411241 UniProtKB/TrEMBL
  ENSP00000412697 UniProtKB/TrEMBL
Ensembl Transcript ENST00000234071 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402125 UniProtKB/TrEMBL
  ENST00000409048 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000419985 UniProtKB/TrEMBL
  ENST00000427769 UniProtKB/TrEMBL
  ENST00000429925 UniProtKB/TrEMBL
  ENST00000431364 UniProtKB/TrEMBL
  ENST00000442644 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.740.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115718 GTEx
HGNC ID HGNC:9451 ENTREZGENE
Human Proteome Map PROC Human Proteome Map
InterPro Coagulation_fac-like_Gla_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_CS UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA-like_dom_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pept_S1A_FX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5624 UniProtKB/Swiss-Prot
NCBI Gene 5624 ENTREZGENE
OMIM 176860 OMIM
  612283 OMIM
  612304 OMIM
Pfam EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gla UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  hEGF UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33799 PharmGKB, RGD
PIRSF Factor_X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLABLOOD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GLA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S3LTK9_HUMAN UniProtKB/TrEMBL
  E7END6_HUMAN UniProtKB/TrEMBL
  E7ENR9_HUMAN UniProtKB/TrEMBL
  E7EU72_HUMAN UniProtKB/TrEMBL
  E7EVH6_HUMAN UniProtKB/TrEMBL
  F2Z2A0_HUMAN UniProtKB/TrEMBL
  H7BYX9_HUMAN UniProtKB/TrEMBL
  I7BL31_HUMAN UniProtKB/TrEMBL
  P04070 ENTREZGENE, UniProtKB/Swiss-Prot
  Q8J002_HUMAN UniProtKB/TrEMBL
  Q8J003_HUMAN UniProtKB/TrEMBL
  Q8J004_HUMAN UniProtKB/TrEMBL
  Q8J005_HUMAN UniProtKB/TrEMBL
  Q8J006_HUMAN UniProtKB/TrEMBL
  Q8J007_HUMAN UniProtKB/TrEMBL
  Q8J008_HUMAN UniProtKB/TrEMBL
  Q8J009_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DPQ7 UniProtKB/Swiss-Prot
  Q15189 UniProtKB/Swiss-Prot
  Q15190 UniProtKB/Swiss-Prot
  Q16001 UniProtKB/Swiss-Prot
  Q53S74 UniProtKB/Swiss-Prot
  Q9UC55 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PROC  protein C, inactivator of coagulation factors Va and VIIIa    protein C (inactivator of coagulation factors Va and VIIIa)  Symbol and/or name change 5135510 APPROVED