Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2157
Gene name Gene Name - the full gene name approved by the HGNC.	Coagulation factor VIII
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	F8
Synonyms (NCBI Gene) Gene synonyms aliases	AHF, DXS1253E, F8B, F8C, FVIII, HEMA, THPH13
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HEMA, THPH13
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq28
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2228152	T>A,C	Pathogenic, likely-benign	Coding sequence variant, missense variant, genic upstream transcript variant, stop gained
rs28933668	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs28933669	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933670	A>C,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933671	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933672	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933673	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933674	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933675	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933676	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933677	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933678	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933679	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933680	G>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933681	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28933682	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28935203	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28935499	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937272	T>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937282	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937285	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937287	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937289	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs28937294	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs34371500	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs111033613	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs111033614	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs111033615	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs111033616	A>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852354	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852355	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852356	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs137852357	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852358	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852359	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852360	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs137852361	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs137852362	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852363	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs137852364	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852365	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852366	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852367	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852368	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained, genic upstream transcript variant
rs137852369	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852371	C>A,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852372	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852373	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs137852374	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852375	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852376	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852377	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852378	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852379	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852380	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852381	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852382	A>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852383	A>C,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852384	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852385	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852386	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852387	C>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852388	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852389	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852390	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852391	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852392	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852393	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852394	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852395	T>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852396	T>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852397	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852398	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852399	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852400	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852401	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852402	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852403	C>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852404	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852405	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852406	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852407	A>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852408	A>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852409	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852410	C>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852413	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852414	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs137852415	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852416	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852417	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852418	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852419	T>C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852420	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852421	C>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852422	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852424	G>A,C,T	Pathogenic	Stop gained, missense variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs137852425	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852426	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant
rs137852427	T>C,G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852428	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852429	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852430	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852431	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852432	G>C	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852433	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852434	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852435	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852436	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852439	G>A,C,T	Pathogenic, uncertain-significance	Stop gained, missense variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs137852440	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852441	C>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852442	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852443	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852444	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852445	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852446	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852448	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852449	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852450	C>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852451	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852452	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs137852453	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852454	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852455	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852456	G>A,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852457	T>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852458	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852459	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852460	G>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852461	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852462	G>T	Pathogenic	Coding sequence variant, missense variant
rs137852463	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs137852464	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852465	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852466	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs137852467	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852468	C>G	Pathogenic	Coding sequence variant, missense variant
rs137852469	C>A	Pathogenic	Coding sequence variant, missense variant
rs137852470	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852471	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852472	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852473	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852474	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs137852475	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs137852476	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs139526001	T>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs151202877	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs267606791	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs369414658	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs375241473	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906429	C>T	Pathogenic	Genic upstream transcript variant, intron variant
rs387906430	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906431	CATT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906432	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906433	TT>-,TTT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906434	AACA>-	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906435	AC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906436	CT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906437	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906438	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906439	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906440	TC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906441	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906442	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906443	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906444	T>C	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906445	->C	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906446	A>G	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs387906447	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906448	CT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906449	TT>-,TTT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906450	T>-,TT	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906451	G>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906452	ATCT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906453	AAGAG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906454	TTCT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906455	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906456	G>-	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906457	T>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs387906458	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906459	->T	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906460	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906461	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906462	GA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs387906463	TT>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906464	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906465	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906466	GATTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs397514036	T>-,TT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs781797728	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs781928603	AAAAAAAAAAAAA>-,A,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA	Pathogenic	Intron variant, genic upstream transcript variant
rs781943956	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782158761	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782193428	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782198570	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs782216863	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782473762	C>A,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782657516	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs782668199	A>C,G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, missense variant
rs782733685	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs782763245	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, synonymous variant
rs886039906	->TTGGTTAT	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs942909873	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1047644991	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521074	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1060499784	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1189348665	A>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1190705187	C>A,T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1195283929	C>T	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1215569190	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1216878586	AT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1229954426	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1232517683	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs1261929809	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1273080258	T>A,C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1297584118	T>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1305924233	T>A,G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1312347909	T>C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1359096117	G>A,T	Likely-pathogenic	Genic upstream transcript variant, stop gained, missense variant, coding sequence variant
rs1375894900	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1417520379	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1448187077	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1454692506	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1472169963	G>C	Pathogenic	Coding sequence variant, missense variant
rs1482306571	C>T	Likely-pathogenic	Intron variant, genic upstream transcript variant
rs1486435006	A>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1490417405	C>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557271042	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1557278259	C>T	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557278411	G>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557278778	TT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1557280964	A>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557281265	T>C	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1557281954	G>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1557285171	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1569559514	CTCTT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1569559516	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559523	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559755	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559758	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559881	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1569559955	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603430929	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1603431479	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603431506	A>G	Pathogenic	Coding sequence variant, missense variant
rs1603431508	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603431511	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603431512	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1603431561	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1603431562	A>C	Pathogenic	Coding sequence variant, missense variant
rs1603432783	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432784	A>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432906	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432908	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432913	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432970	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432979	C>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603432996	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603433713	A>G	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1603433715	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant
rs1603433729	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603433733	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1603433756	->G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603433779	TTTTGAG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603433803	AT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603434460	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603434697	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603434698	T>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603434863	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603435026	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603435027	G>C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs1603435217	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603435220	GT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603435260	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1603435281	->T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603435286	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603435395	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436123	GGTGCTGAATTTGGAAGACCCTGAGGATTGTTGAGCAGGTGTGTACATACCTGGCAGAGACCTGTTTACATAACCATTGACTGTGTGCATTTTAGGCCAGGCCCGAGCAGATGCAGCATCCCTATCCTGCATCAAGGAGTTCTTTGTTTCTGAGTGCCAACTTTTCCCTGATGAGAGAGAAGGCAAAGATAGAGTCAGCTAAGCATGTGTCTCATGA>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, splice donor variant, intron variant, genic upstream transcript variant
rs1603436217	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436218	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436424	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant
rs1603436426	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436436	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436638	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436639	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603436770	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1603437863	TGCAC>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

Show/Hide all(149)

miRTarBase ID	miRNA	Experiments	Reference
MIRT735098	hsa-miR-19b-3p	Luciferase reporter assay, Western blotting, qRT-PCR	32789639
MIRT735099	hsa-miR-186-5p	Luciferase reporter assay, Western blotting, qRT-PCR	32850803
MIRT735906	hsa-miR-30c-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR, ELISA	31785023
MIRT974661	hsa-miR-134	CLIP-seq
MIRT974662	hsa-miR-3118	CLIP-seq
MIRT974663	hsa-miR-3145-5p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT974665	hsa-miR-3164	CLIP-seq
MIRT974666	hsa-miR-3188	CLIP-seq
MIRT974667	hsa-miR-3682-3p	CLIP-seq
MIRT974668	hsa-miR-3691-5p	CLIP-seq
MIRT974669	hsa-miR-4318	CLIP-seq
MIRT974670	hsa-miR-4433	CLIP-seq
MIRT974671	hsa-miR-4459	CLIP-seq
MIRT974672	hsa-miR-4504	CLIP-seq
MIRT974673	hsa-miR-4693-5p	CLIP-seq
MIRT974674	hsa-miR-4695-5p	CLIP-seq
MIRT974675	hsa-miR-4752	CLIP-seq
MIRT974676	hsa-miR-4760-3p	CLIP-seq
MIRT974677	hsa-miR-4768-3p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT974679	hsa-miR-508-3p	CLIP-seq
MIRT974680	hsa-miR-542-3p	CLIP-seq
MIRT974681	hsa-miR-579	CLIP-seq
MIRT974682	hsa-miR-664	CLIP-seq
MIRT974683	hsa-miR-758	CLIP-seq
MIRT974684	hsa-miR-892a	CLIP-seq
MIRT1988787	hsa-miR-297	CLIP-seq
MIRT1988788	hsa-miR-3149	CLIP-seq
MIRT1988789	hsa-miR-4307	CLIP-seq
MIRT1988790	hsa-miR-567	CLIP-seq
MIRT1988791	hsa-miR-592	CLIP-seq
MIRT1988792	hsa-miR-597	CLIP-seq
MIRT2223179	hsa-miR-1321	CLIP-seq
MIRT2223180	hsa-miR-298	CLIP-seq
MIRT974663	hsa-miR-3145-5p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT2223181	hsa-miR-3158-5p	CLIP-seq
MIRT2223182	hsa-miR-3192	CLIP-seq
MIRT2223183	hsa-miR-3692	CLIP-seq
MIRT2223184	hsa-miR-4270	CLIP-seq
MIRT2223185	hsa-miR-4300	CLIP-seq
MIRT2223186	hsa-miR-4314	CLIP-seq
MIRT2223187	hsa-miR-4441	CLIP-seq
MIRT2223188	hsa-miR-4646-5p	CLIP-seq
MIRT2223189	hsa-miR-4728-5p	CLIP-seq
MIRT2223190	hsa-miR-4739	CLIP-seq
MIRT2223191	hsa-miR-4756-5p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT974679	hsa-miR-508-3p	CLIP-seq
MIRT2223192	hsa-miR-646	CLIP-seq
MIRT2223193	hsa-miR-920	CLIP-seq
MIRT974663	hsa-miR-3145-5p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT2527057	hsa-miR-1207-5p	CLIP-seq
MIRT2527058	hsa-miR-1252	CLIP-seq
MIRT2527059	hsa-miR-1273e	CLIP-seq
MIRT2527060	hsa-miR-129-5p	CLIP-seq
MIRT2527061	hsa-miR-146b-3p	CLIP-seq
MIRT2527062	hsa-miR-203	CLIP-seq
MIRT2527063	hsa-miR-2467-5p	CLIP-seq
MIRT2527064	hsa-miR-3127-5p	CLIP-seq
MIRT2527065	hsa-miR-3135	CLIP-seq
MIRT2527066	hsa-miR-3143	CLIP-seq
MIRT2527067	hsa-miR-3150b-3p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT2527068	hsa-miR-3160-3p	CLIP-seq
MIRT2527069	hsa-miR-3160-5p	CLIP-seq
MIRT2527070	hsa-miR-3173-5p	CLIP-seq
MIRT974666	hsa-miR-3188	CLIP-seq
MIRT2527071	hsa-miR-3202	CLIP-seq
MIRT2527072	hsa-miR-34a	CLIP-seq
MIRT2527073	hsa-miR-34c-5p	CLIP-seq
MIRT2527074	hsa-miR-3665	CLIP-seq
MIRT2527075	hsa-miR-375	CLIP-seq
MIRT2527076	hsa-miR-383	CLIP-seq
MIRT2527077	hsa-miR-3921	CLIP-seq
MIRT2527078	hsa-miR-3975	CLIP-seq
MIRT2527079	hsa-miR-4251	CLIP-seq
MIRT2527080	hsa-miR-4254	CLIP-seq
MIRT2223184	hsa-miR-4270	CLIP-seq
MIRT2527081	hsa-miR-4279	CLIP-seq
MIRT2527082	hsa-miR-4308	CLIP-seq
MIRT2527083	hsa-miR-4329	CLIP-seq
MIRT2527084	hsa-miR-4419a	CLIP-seq
MIRT2223187	hsa-miR-4441	CLIP-seq
MIRT2527085	hsa-miR-449a	CLIP-seq
MIRT2527086	hsa-miR-449b	CLIP-seq
MIRT2527087	hsa-miR-4510	CLIP-seq
MIRT2527088	hsa-miR-4522	CLIP-seq
MIRT2527089	hsa-miR-4533	CLIP-seq
MIRT2527090	hsa-miR-4633-3p	CLIP-seq
MIRT2527091	hsa-miR-4653-5p	CLIP-seq
MIRT2527092	hsa-miR-4689	CLIP-seq
MIRT2527093	hsa-miR-4693-3p	CLIP-seq
MIRT2527094	hsa-miR-4714-5p	CLIP-seq
MIRT2527095	hsa-miR-4736	CLIP-seq
MIRT2527096	hsa-miR-4763-3p	CLIP-seq
MIRT2527097	hsa-miR-4772-5p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT2527098	hsa-miR-4779	CLIP-seq
MIRT2527099	hsa-miR-4784	CLIP-seq
MIRT2527100	hsa-miR-4804-3p	CLIP-seq
MIRT2527101	hsa-miR-485-5p	CLIP-seq
MIRT2527102	hsa-miR-490-3p	CLIP-seq
MIRT2527103	hsa-miR-494	CLIP-seq
MIRT2527104	hsa-miR-649	CLIP-seq
MIRT2527105	hsa-miR-657	CLIP-seq
MIRT2527106	hsa-miR-764	CLIP-seq
MIRT2527107	hsa-miR-874	CLIP-seq
MIRT2527059	hsa-miR-1273e	CLIP-seq
MIRT2527060	hsa-miR-129-5p	CLIP-seq
MIRT2527061	hsa-miR-146b-3p	CLIP-seq
MIRT2527064	hsa-miR-3127-5p	CLIP-seq
MIRT2527065	hsa-miR-3135	CLIP-seq
MIRT2527067	hsa-miR-3150b-3p	CLIP-seq
MIRT974664	hsa-miR-3152-5p	CLIP-seq
MIRT2527068	hsa-miR-3160-3p	CLIP-seq
MIRT2527069	hsa-miR-3160-5p	CLIP-seq
MIRT2527070	hsa-miR-3173-5p	CLIP-seq
MIRT2527071	hsa-miR-3202	CLIP-seq
MIRT2527074	hsa-miR-3665	CLIP-seq
MIRT2527075	hsa-miR-375	CLIP-seq
MIRT2527076	hsa-miR-383	CLIP-seq
MIRT2527077	hsa-miR-3921	CLIP-seq
MIRT2527079	hsa-miR-4251	CLIP-seq
MIRT2527080	hsa-miR-4254	CLIP-seq
MIRT2223184	hsa-miR-4270	CLIP-seq
MIRT2527081	hsa-miR-4279	CLIP-seq
MIRT2527082	hsa-miR-4308	CLIP-seq
MIRT2527083	hsa-miR-4329	CLIP-seq
MIRT2527084	hsa-miR-4419a	CLIP-seq
MIRT2223187	hsa-miR-4441	CLIP-seq
MIRT2527087	hsa-miR-4510	CLIP-seq
MIRT2527088	hsa-miR-4522	CLIP-seq
MIRT2527089	hsa-miR-4533	CLIP-seq
MIRT2527090	hsa-miR-4633-3p	CLIP-seq
MIRT2527091	hsa-miR-4653-5p	CLIP-seq
MIRT2527092	hsa-miR-4689	CLIP-seq
MIRT2527093	hsa-miR-4693-3p	CLIP-seq
MIRT2527094	hsa-miR-4714-5p	CLIP-seq
MIRT2527097	hsa-miR-4772-5p	CLIP-seq
MIRT974678	hsa-miR-4774-3p	CLIP-seq
MIRT2527098	hsa-miR-4779	CLIP-seq
MIRT2527099	hsa-miR-4784	CLIP-seq
MIRT2527103	hsa-miR-494	CLIP-seq
MIRT2527105	hsa-miR-657	CLIP-seq
MIRT2527107	hsa-miR-874	CLIP-seq

Transcription factors

Show/Hide all(4)

Transcription factor	Regulation	Reference
APC	Unknown	12010799
CEBPB	Unknown	10959692
NFKB1	Unknown	10959692
RELA	Unknown	10959692

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0002576	Process	Platelet degranulation	TAS
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	7756647
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	TAS
GO:0006953	Process	Acute-phase response	IEA
GO:0007596	Process	Blood coagulation	TAS	8275087
GO:0007597	Process	Blood coagulation, intrinsic pathway	IBA	21873635
GO:0007597	Process	Blood coagulation, intrinsic pathway	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0048208	Process	COPII vesicle coating	TAS

MIM	HGNC	e!Ensembl
300841	3546	ENSG00000185010

Protein

UniProt ID

P00451

Protein name

Coagulation factor VIII (Antihemophilic factor) (AHF) (Procoagulant component) [Cleaved into: Factor VIIIa heavy chain, 200 kDa isoform; Factor VIIIa heavy chain, 92 kDa isoform; Factor VIII B chain; Factor VIIIa light chain]

Protein function

Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.

PDB

1CFG , 1D7P , 1FAC , 1IQD , 2R7E , 3CDZ , 3HNB , 3HNY , 3HOB , 3J2Q , 3J2S , 4BDV , 4KI5 , 4PT6 , 4XZU , 5K8D , 6MF0 , 6MF2 , 7K66 , 7KBT , 7KWO , 8G6I , 8TY1 , 9D5D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07732	Cu-oxidase_3	88 → 202	Multicopper oxidase	Domain
PF00394	Cu-oxidase	218 → 349	Multicopper oxidase	Domain
PF07732	Cu-oxidase_3	444 → 577	Multicopper oxidase	Domain
PF07731	Cu-oxidase_2	1915 → 2039	Multicopper oxidase	Domain
PF00754	F5_F8_type_C	2055 → 2185	F5/8 type C domain	Domain
PF00754	F5_F8_type_C	2208 → 2342	F5/8 type C domain	Domain

Sequence

MQIELSTCFFLCLLRFCFSATRRYYLGAVELSWDYMQSDLGELPVDARFPPRVPKSFPFN
TSVVYKKTLFVEFTDHLFNIAKPRPPWMGLLGPTIQAEVYDTVVITLKNMASHPVSLHAV
GVSYWKASEGAEYDDQTSQREKEDDKVFPGGSHTYVWQVLKENGPMASDPLCLTYSYLSH
VDLVKDLNSGLIGALLVCREGSLAKEKTQTLHKFILLFAVFDEGKSWHSETKNSLMQDRD
AASARAWPKMHTVNGYVNRSLPGLIGCHRKSVYWHVIGMGTTPEVHSIFLEGHTFLVRNH
RQASLEISPITFLTAQTLLMDLGQFLLFCHISSHQHDGMEAYVKVDSCPEEPQLRMKNNE
EAEDYDDDLTDSEMDVVRFDDDNSPSFIQIRSVAKKHPKTWVHYIAAEEEDWDYAPLVLA
PDDRSYKSQYLNNGPQRIGRKYKKVRFMAYTDETFKTREAIQHESGILGPLLYGEVGDTL
LIIFKNQASRPYNIYPHGITDVRPLYSRRLPKGVKHLKDFPILPGEIFKYKWTVTVEDGP
TKSDPRCLTRYYSSFVNMERDLASGLIGPLLICYKESVDQRGNQIMSDKRNVILFSVFDE
NRSWYLTENIQRFLPNPAGVQLEDPEFQASNIMHSINGYVFDSLQLSVCLHEVAYWYILS
IGAQTDFLSVFFSGYTFKHKMVYEDTLTLFPFSGETVFMSMENPGLWILGCHNSDFRNRG
MTALLKVSSCDKNTGDYYEDSYEDISAYLLSKNNAIEPRSFSQNSRHPSTRQKQFNATTI
PENDIEKTDPWFAHRTPMPKIQNVSSSDLLMLLRQSPTPHGLSLSDLQEAKYETFSDDPS
PGAIDSNNSLSEMTHFRPQLHHSGDMVFTPESGLQLRLNEKLGTTAATELKKLDFKVSST
SNNLISTIPSDNLAAGTDNTSSLGPPSMPVHYDSQLDTTLFGKKSSPLTESGGPLSLSEE
NNDSKLLESGLMNSQESSWGKNVSSTESGRLFKGKRAHGPALLTKDNALFKVSISLLKTN
KTSNNSATNRKTHIDGPSLLIENSPSVWQNILESDTEFKKVTPLIHDRMLMDKNATALRL
NHMSNKTTSSKNMEMVQQKKEGPIPPDAQNPDMSFFKMLFLPESARWIQRTHGKNSLNSG
QGPSPKQLVSLGPEKSVEGQNFLSEKNKVVVGKGEFTKDVGLKEMVFPSSRNLFLTNLDN
LHENNTHNQEKKIQEEIEKKETLIQENVVLPQIHTVTGTKNFMKNLFLLSTRQNVEGSYD
GAYAPVLQDFRSLNDSTNRTKKHTAHFSKKGEEENLEGLGNQTKQIVEKYACTTRISPNT
SQQNFVTQRSKRALKQFRLPLEETELEKRIIVDDTSTQWSKNMKHLTPSTLTQIDYNEKE
KGAITQSPLSDCLTRSHSIPQANRSPLPIAKVSSFPSIRPIYLTRVLFQDNSSHLPAASY
RKKDSGVQESSHFLQGAKKNNLSLAILTLEMTGDQREVGSLGTSATNSVTYKKVENTVLP
KPDLPKTSGKVELLPKVHIYQKDLFPTETSNGSPGHLDLVEGSLLQGTEGAIKWNEANRP
GKVPFLRVATESSAKTPSKLLDPLAWDNHYGTQIPKEEWKSQEKSPEKTAFKKKDTILSL
NACESNHAIAAINEGQNKPEIEVTWAKQGRTERLCSQNPPVLKRHQREITRTTLQSDQEE
IDYDDTISVEMKKEDFDIYDEDENQSPRSFQKKTRHYFIAAVERLWDYGMSSSPHVLRNR
AQSGSVPQFKKVVFQEFTDGSFTQPLYRGELNEHLGLLGPYIRAEVEDNIMVTFRNQASR
PYSFYSSLISYEEDQRQGAEPRKNFVKPNETKTYFWKVQHHMAPTKDEFDCKAWAYFSDV
DLEKDVHSGLIGPLLVCHTNTLNPAHGRQVTVQEFALFFTIFDETKSWYFTENMERNCRA
PCNIQMEDPTFKENYRFHAINGYIMDTLPGLVMAQDQRIRWYLLSMGSNENIHSIHFSGH
VFTVRKKEEYKMALYNLYPGVFETVEMLPSKAGIWRVECLIGEHLHAGMSTLFLVYSNKC
QTPLGMASGHIRDFQITASGQYGQWAPKLARLHYSGSINAWSTKEPFSWIKVDLLAPMII
HGIKTQGARQKFSSLYISQFIIMYSLDGKKWQTYRGNSTGTLMVFFGNVDSSGIKHNIFN
PPIIARYIRLHPTHYSIRSTLRMELMGCDLNSCSMPLGMESKAISDAQITASSYFTNMFA
TWSPSKARLHLQGRSNAWRPQVNNPKEWLQVDFQKTMKVTGVTTQGVKSLLTSMYVKEFL
ISSSQDGHQWTLFFQNGKVKVFQGNQDSFTPVVNSLDPPLLTRYLRIHPQSWVHQIALRM
EVLGCEAQDLY

Sequence length

2351

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation Common Pathway of Fibrin Clot Formation COPII-mediated vesicle transport Cargo concentration in the ER

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470
Autoimmune diseases	Autoimmune Diseases	rs869025224	11886462
Hemophilia	Hemophilia B, Hemophilia A	rs1178811105, rs2147483647, rs137852241, rs137852243, rs1927322453, rs1927322926, rs1166164399	31064749, 10800171, 9569180, 10215414, 2495245, 7579394, 8449505, 16805874, 1924291, 11554935, 9829908, 11918545, 9886318, 16051741, 11341489 View all (79 more)
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154 View all (56 more)	16628723

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	34887322
Aggressive Periodontitis	Associate	30836803
Angioedemas Hereditary	Associate	12393451, 21251204, 29877292
Angioedemas Hereditary	Stimulate	20704648
Blood Coagulation Disorders	Associate	15471879, 19552680, 29769125, 38320121
Blood Coagulation Disorders	Inhibit	36859289
Blood Platelet Disorders	Associate	38320121
Carcinoma Ovarian Epithelial	Associate	26399219
Cardiovascular Diseases	Stimulate	25779970
Cardiovascular Diseases	Associate	31985870
Cerebral Infarction	Stimulate	17927806
Cholangitis Sclerosing	Inhibit	39969330
Coagulation Protein Disorders	Associate	34135429
Cognition Disorders	Associate	25209581
Coronary Disease	Associate	10760079, 31985870
COVID 19	Associate	36054979
Cytomegalovirus Infections	Associate	35054807
Death	Associate	26264493
Developmental Disabilities	Associate	30701557
Diabetes Mellitus	Associate	10760079, 22219226
Edema	Associate	39333538
Factor 8 deficiency acquired	Associate	12911593, 34455699, 38003562
Factor X Deficiency	Associate	26878264
Familial Multiple Coagulation Factor Deficiency I	Inhibit	20142513
Fatty Liver	Associate	34082137
Fibrosis	Associate	29577605
Fragile X Syndrome	Associate	8023856
Gastrointestinal Hemorrhage	Inhibit	36859289
Genetic Diseases Inborn	Associate	21605333, 29257243
Glycogen Storage Disease XIV	Associate	30701557
Heart Failure	Associate	31985870
Heart Valve Diseases	Associate	10841240
Hemophilia A	Associate	10468875, 10554831, 10606882, 10627462, 10841240, 11110718, 12091341, 12393451, 12406074, 12763932, 12911593, 12930394, 12969981, 14521599, 14699993 View all (80 more)
Hemophilia A	Inhibit	10607698, 12941038, 16042693, 19548904, 2105106, 24199202, 25029970, 28374963, 28393618, 30042145, 30396910, 31329369, 31876401, 32928254, 33645244, 34421119, 38460838 View all (2 more)
Hemorrhage	Associate	12763932, 16999850, 19563500, 21605333, 27629384, 32915950, 34455699, 35533261, 39800255
Hemorrhage	Inhibit	24001010, 25029970, 31834934, 32627611, 33645244
HIV Infections	Associate	24759134
Hydrocephalus X linked	Associate	2277384
Hypersensitivity Immediate	Associate	11564075
Hyperthyroidism	Stimulate	34210154
IgA Vasculitis	Inhibit	36859289
Immunologic Deficiency Syndromes	Associate	12871369, 16805874, 17059431, 30125997, 30701557
Immunologic Deficiency Syndromes	Stimulate	30701557
Inflammatory Bowel Diseases	Stimulate	39969330
Ischemic Stroke	Associate	28431990
Joint Diseases	Inhibit	25029970
Kidney Diseases	Associate	10760079
Lupus Erythematosus Systemic	Associate	33622323
MASA (Mental Retardation Aphasia Shuffling Gait Adducted Thumbs) Syndrome	Associate	2277384
Migraine Disorders	Associate	22664050
Multiple Sclerosis	Inhibit	39969330
Muscular Dystrophy Emery Dreifuss	Associate	1998333
Myopathies Structural Congenital	Associate	1972196
Neoplasms	Associate	23134683, 29769125, 34847278
Osteonecrosis	Associate	33622323
Peripheral Arterial Disease	Associate	32847391
Pulmonary Disease Chronic Obstructive	Associate	21624643
Pulmonary Embolism	Associate	33984481, 36890726
Seizures	Associate	30701557
Severe Acute Respiratory Syndrome	Associate	31571361, 38616241
Severe Acute Respiratory Syndrome	Inhibit	32627611
Stroke	Associate	31985870, 38253246
Tay Sachs Disease AB Variant	Stimulate	25209581
Tetany	Associate	25617427
Thromboembolism	Associate	16188774
Thrombophilia	Associate	14521595
Thrombophilia hereditary	Associate	14521595
Thrombosis	Associate	11380453, 12393556, 15606555, 16732372, 19825912, 24759134, 26264493, 38320121
Thrombosis	Stimulate	33622323
Urinary Bladder Neoplasms	Associate	34847278
Vascular System Injuries	Associate	15566360
Venous Thromboembolism	Associate	14510956, 14521595, 15353485, 20946148, 21498909, 22531482, 25779970, 25782371, 34847278
Venous Thromboembolism	Stimulate	24804362
Venous Thrombosis	Associate	14510956, 16188774, 16732372, 24679097, 26264493
Venous Thrombosis	Stimulate	15353485, 19029445, 20682599, 30471183
von Willebrand Disease Type 1	Associate	16634747, 23349392, 31834934
von Willebrand Disease Type 2	Associate	16420565, 22102194, 28436749, 33662989, 9692396
von Willebrand Disease Type 3	Associate	18055987, 30836803
von Willebrand Disease Type 3	Inhibit	22102194
von Willebrand Diseases	Associate	11756169, 1732004, 1906877, 2506947, 35505650, 9845532

F8 (coagulation factor VIII)