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UniProtKB - P00451 (FA8_HUMAN)

Entry version 259 (10 Feb 2021)
Sequence version 1 (21 Jul 1986)
Previous versions | rss
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Protein

Coagulation factor VIII

Gene

F8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAcute phase, Blood coagulation, Hemostasis
LigandCalcium, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P00451

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-114608, Platelet degranulation
R-HSA-140837, Intrinsic Pathway of Fibrin Clot Formation
R-HSA-140875, Common Pathway of Fibrin Clot Formation
R-HSA-163841, Gamma carboxylation, hypusine formation and arylsulfatase activation
R-HSA-204005, COPII-mediated vesicle transport
R-HSA-5694530, Cargo concentration in the ER
R-HSA-9672383, Defective factor IX causes thrombophilia
R-HSA-9672387, Defective F8 accelerates dissociation of the A2 domain
R-HSA-9672391, Defective F8 cleavage by thrombin
R-HSA-9672393, Defective F8 binding to von Willebrand factor
R-HSA-9672395, Defective F8 binding to the cell membrane
R-HSA-9672396, Defective cofactor function of FVIIIa variant
R-HSA-9672397, Defective F8 secretion
R-HSA-9673202, Defective F9 variant does not activate FX
R-HSA-9674519, Defective F8 sulfation at Y1699

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P00451

SIGNOR Signaling Network Open Resource

More...SIGNORi		P00451

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Coagulation factor VIII
Alternative name(s):
Antihemophilic factor
Short name:
AHF
Procoagulant component
Cleaved into the following 4 chains:
Factor VIIIa heavy chain, 200 kDa isoform
Factor VIIIa heavy chain, 92 kDa isoform
Factor VIII B chain
Factor VIIIa light chain
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:F8
Synonyms:F8C
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3546, F8

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		300841, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P00451

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000185010.13

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hemophilia A (HEMA)80 Publications
The disease is caused by variants affecting the gene represented in this entry. Of particular interest for the understanding of the function of F8 is the category of CRM (cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein.
Disease descriptionA disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02844719S → R in HEMA. 1 Publication1
Natural variantiVAR_02844822R → T in HEMA; severe. 1 Publication1
Natural variantiVAR_02844924Y → C in HEMA. 1 Publication1
Natural variantiVAR_02845025Y → C in HEMA; mild. 1 Publication1
Natural variantiVAR_02845126L → P in HEMA; severe. 1 Publication1
Natural variantiVAR_00104526L → R in HEMA; severe. 3 PublicationsCorresponds to variant dbSNP:rs137852377EnsemblClinVar.1
Natural variantiVAR_00104630E → V in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852378EnsemblClinVar.1
Natural variantiVAR_02845233W → G in HEMA; moderate. 1 Publication1
Natural variantiVAR_02845335Y → C in HEMA; mild/severe. 1 PublicationCorresponds to variant dbSNP:rs137852476EnsemblClinVar.1
Natural variantiVAR_02845435Y → H in HEMA; severe. 1 Publication1
Natural variantiVAR_00104741G → C in HEMA; severe/moderate. Corresponds to variant dbSNP:rs137852379EnsemblClinVar.1
Natural variantiVAR_00104848R → C in HEMA; severe. 1
Natural variantiVAR_02845548R → K in HEMA. 1 PublicationCorresponds to variant dbSNP:rs1261929809EnsemblClinVar.1
Natural variantiVAR_02845667K → E in HEMA; severe. 1 Publication1
Natural variantiVAR_02845767K → N in HEMA. 1 Publication1
Natural variantiVAR_02845869L → P in HEMA; moderate-severe. 1 PublicationCorresponds to variant dbSNP:rs944567323Ensembl.1
Natural variantiVAR_01733072E → K in HEMA; moderate. 1 Publication1
Natural variantiVAR_02845975D → E in HEMA; moderate. 1 Publication1
Natural variantiVAR_02846075D → Y in HEMA; moderate-severe. 1 Publication1
Natural variantiVAR_06530383P → R in HEMA. 1 PublicationCorresponds to variant dbSNP:rs781974394Ensembl.1
Natural variantiVAR_02846184 – 85Missing in HEMA; severe. 1 Publication2
Natural variantiVAR_02846285Missing in HEMA; moderate. 1 Publication1
Natural variantiVAR_00105089G → D in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852380EnsemblClinVar.1
Natural variantiVAR_00105189G → V in HEMA; mild. 1 Publication1
Natural variantiVAR_02846392G → A in HEMA. 1 Publication1
Natural variantiVAR_02846492G → V in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852381EnsemblClinVar.1
Natural variantiVAR_01733197A → P in HEMA. 1 Publication1
Natural variantiVAR_02846598E → K in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs1296842178Ensembl.1
Natural variantiVAR_00105299V → D in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852382EnsemblClinVar.1
Natural variantiVAR_028466101D → G in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs1312347909EnsemblClinVar.1
Natural variantiVAR_028467101D → H in HEMA; severe sporadic. 1 Publication1
Natural variantiVAR_028468101D → V in HEMA. 1 Publication1
Natural variantiVAR_001053104V → D in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852383EnsemblClinVar.1
Natural variantiVAR_001054108K → T in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852384EnsemblClinVar.1
Natural variantiVAR_001055110M → V in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs137852385EnsemblClinVar.1
Natural variantiVAR_028469111A → T in HEMA; severe. 1 Publication1
Natural variantiVAR_028470111A → V in HEMA; moderate. 1 Publication1
Natural variantiVAR_028471113H → R in HEMA; mild. 1 Publication1
Natural variantiVAR_028472113H → Y in HEMA. 1 Publication1
Natural variantiVAR_028473117L → F in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs782481755Ensembl.1
Natural variantiVAR_001056117L → R in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852386EnsemblClinVar.1
Natural variantiVAR_028474121G → S in HEMA. 1 Publication1
Natural variantiVAR_001057129E → V in HEMA; severe. 1 Publication1
Natural variantiVAR_001058130G → R in HEMA; severe. Corresponds to variant dbSNP:rs137852387EnsemblClinVar.1
Natural variantiVAR_001059132E → D in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852388EnsemblClinVar.1
Natural variantiVAR_001060133Y → C in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852389EnsemblClinVar.1
Natural variantiVAR_001061135D → G in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852390EnsemblClinVar.1
Natural variantiVAR_028475135D → Y in HEMA; severe sporadic. 1 Publication1
Natural variantiVAR_028476137T → A in HEMA; severe. 1 Publication1
Natural variantiVAR_001062137T → I in HEMA; moderate. Corresponds to variant dbSNP:rs137852391EnsemblClinVar.1
Natural variantiVAR_028477138S → R in HEMA; mild. 1 Publication1
Natural variantiVAR_028478141E → K in HEMA; severe familial. 1 PublicationCorresponds to variant dbSNP:rs1388356765Ensembl.1
Natural variantiVAR_028479145D → H in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs1433420305Ensembl.1
Natural variantiVAR_028480147V → D in HEMA; severe. 1 Publication1
Natural variantiVAR_017332155Y → H in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs1281943689Ensembl.1
Natural variantiVAR_028481159V → A in HEMA; moderate. 1 Publication1
Natural variantiVAR_028482163N → K in HEMA; moderate. 1 Publication1
Natural variantiVAR_028483164G → D in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs137852392EnsemblClinVar.1
Natural variantiVAR_001063164G → V in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852392EnsemblClinVar.1
Natural variantiVAR_001064165P → S in HEMA; severe. Corresponds to variant dbSNP:rs137852393EnsemblClinVar.1
Natural variantiVAR_028484172C → W in HEMA. 2 Publications1
Natural variantiVAR_028485176S → P in HEMA. 1 Publication1
Natural variantiVAR_028486179S → P in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs1455943875Ensembl.1
Natural variantiVAR_017333181V → E in HEMA; mild. 1 Publication1
Natural variantiVAR_001065181V → M in HEMA; mild/moderate. 6 PublicationsCorresponds to variant dbSNP:rs137852394EnsemblClinVar.1
Natural variantiVAR_001066185K → T in HEMA; mild. Corresponds to variant dbSNP:rs137852395EnsemblClinVar.1
Natural variantiVAR_028487186D → G in HEMA; mild. 1 Publication1
Natural variantiVAR_065304186D → N in HEMA. 1 Publication1
Natural variantiVAR_028488186D → Y in HEMA; severe. 1 Publication1
Natural variantiVAR_001067189S → L in HEMA; moderate. 2 PublicationsCorresponds to variant dbSNP:rs137852367EnsemblClinVar.1
Natural variantiVAR_065305191L → F in HEMA. 1 PublicationCorresponds to variant dbSNP:rs1341730743Ensembl.1
Natural variantiVAR_028489193G → R in HEMA; severe familial. 1 Publication1
Natural variantiVAR_065306195L → P in HEMA. 1 Publication1
Natural variantiVAR_028490198C → G in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852475EnsemblClinVar.1
Natural variantiVAR_028491202S → N in HEMA; mild. 1 Publication1
Natural variantiVAR_008123202S → R in HEMA; mild. 1 Publication1
Natural variantiVAR_028492214F → V in HEMA. 1 Publication1
Natural variantiVAR_028493217L → H in HEMA; moderate. 1 Publication1
Natural variantiVAR_028494219A → D in HEMA. 1 Publication1
Natural variantiVAR_028495219A → T in HEMA. 1 Publication1
Natural variantiVAR_028496220V → G in HEMA; mild. 1 Publication1
Natural variantiVAR_001068222D → V in HEMA; moderate. Corresponds to variant dbSNP:rs137852396EnsemblClinVar.1
Natural variantiVAR_028497223E → K in HEMA; severe. 1 Publication1
Natural variantiVAR_001069224G → W in HEMA; moderate. Corresponds to variant dbSNP:rs137852397EnsemblClinVar.1
Natural variantiVAR_028498252T → I in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs1464962436Ensembl.1
Natural variantiVAR_001070253V → F in HEMA; severe. 1 Publication1
Natural variantiVAR_017334254N → I in HEMA; severe. 1 Publication1
Natural variantiVAR_015127255G → V in HEMA; severe. 1 Publication1
Natural variantiVAR_065307261L → P in HEMA. 1 Publication1
Natural variantiVAR_028499262P → L in HEMA; moderate. 1 Publication1
Natural variantiVAR_028500263G → S in HEMA. 1 Publication1
Natural variantiVAR_001071266G → E in HEMA; severe. Corresponds to variant dbSNP:rs137852398EnsemblClinVar.1
Natural variantiVAR_028501267C → Y in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs1208703993Ensembl.1
Natural variantiVAR_028502274W → C in HEMA. 1 PublicationCorresponds to variant dbSNP:rs34371500Ensembl.1
Natural variantiVAR_028503275H → L in HEMA; mild. 1 Publication1
Natural variantiVAR_001072278G → R in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852399EnsemblClinVar.1
Natural variantiVAR_065308280G → D in HEMA. 1 Publication1
Natural variantiVAR_028504284E → K in HEMA; moderate. 1 Publication1
Natural variantiVAR_001073285V → G in HEMA; mild. 2 PublicationsCorresponds to variant dbSNP:rs137852400EnsemblClinVar.1
Natural variantiVAR_001074291E → G in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852359EnsemblClinVar.1
Natural variantiVAR_028505291E → K in HEMA; mild. 4 PublicationsCorresponds to variant dbSNP:rs868988809Ensembl.1
Natural variantiVAR_001075294T → I in HEMA; moderate. Corresponds to variant dbSNP:rs137852401EnsemblClinVar.1
Natural variantiVAR_028506295F → L in HEMA; moderate. 1 Publication1
Natural variantiVAR_028507297V → A in HEMA; mild. 1 Publication1
Natural variantiVAR_001076299N → I in HEMA; mild. 2 PublicationsCorresponds to variant dbSNP:rs137852402EnsemblClinVar.1
Natural variantiVAR_028508301R → C in HEMA; severe/mild. 4 PublicationsCorresponds to variant dbSNP:rs1401805753Ensembl.1
Natural variantiVAR_001077301R → H in HEMA; severe. 4 PublicationsCorresponds to variant dbSNP:rs137852403EnsemblClinVar.1
Natural variantiVAR_001078301R → L in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852403EnsemblClinVar.1
Natural variantiVAR_028509302Missing in HEMA. 1 Publication1
Natural variantiVAR_028510303A → E in HEMA; mild. 2 Publications1
Natural variantiVAR_028511303A → P in HEMA; mild. 1 Publication1
Natural variantiVAR_028512307I → S in HEMA; moderate. 1 Publication1
Natural variantiVAR_001079308S → L in HEMA; moderate. 3 PublicationsCorresponds to variant dbSNP:rs137852404EnsemblClinVar.1
Natural variantiVAR_001080312F → S in HEMA; mild/moderate. 2 PublicationsCorresponds to variant dbSNP:rs137852405EnsemblClinVar.1
Natural variantiVAR_001081314T → A in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852406EnsemblClinVar.1
Natural variantiVAR_001082314T → I in HEMA; moderate. 1 Publication1
Natural variantiVAR_028513315A → V in HEMA. 1 Publication1
Natural variantiVAR_028514320Missing in HEMA; severe. 1
Natural variantiVAR_015128323G → E in HEMA; severe. 1 Publication1
Natural variantiVAR_028515326L → P in HEMA. 1 Publication1
Natural variantiVAR_001083327L → P in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852407EnsemblClinVar.1
Natural variantiVAR_028516327L → V in HEMA; mild. 1 Publication1
Natural variantiVAR_028517329C → F in HEMA. 1 Publication1
Natural variantiVAR_001084331I → V in HEMA; mild. 1 Publication1
Natural variantiVAR_028518339M → T in HEMA; moderate. 1 Publication1
Natural variantiVAR_028519340E → K in HEMA. 1 PublicationCorresponds to variant dbSNP:rs781954986Ensembl.1
Natural variantiVAR_028520345V → A in HEMA. 1 PublicationCorresponds to variant dbSNP:rs1189348665EnsemblClinVar.1
Natural variantiVAR_001085345V → L in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852371EnsemblClinVar.1
Natural variantiVAR_001086348C → R in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852370Ensembl.1
Natural variantiVAR_001087348C → S in HEMA; moderate. Corresponds to variant dbSNP:rs137852410EnsemblClinVar.1
Natural variantiVAR_001088348C → Y in HEMA; mild/severe. 1 Publication1
Natural variantiVAR_028521365Y → C in HEMA; mild. 2 PublicationsCorresponds to variant dbSNP:rs375241473EnsemblClinVar.1
Natural variantiVAR_001089391R → C in HEMA; Okayama; moderate/severe; abolishes the normal cleavage by thrombin. 4 PublicationsCorresponds to variant dbSNP:rs137852364EnsemblClinVar.1
Natural variantiVAR_001090391R → H in HEMA; Kumamoto; mild/moderate; abolishes the normal cleavage by thrombin. 5 PublicationsCorresponds to variant dbSNP:rs28935499EnsemblClinVar.1
Natural variantiVAR_001091391R → P in HEMA; severe; abolishes the normal cleavage by thrombin. 1
Natural variantiVAR_001092392S → L in HEMA; mild; abolishes normal cleavage by thrombin. Corresponds to variant dbSNP:rs28933668EnsemblClinVar.1
Natural variantiVAR_001093392S → P in HEMA; mild. Corresponds to variant dbSNP:rs28933669EnsemblClinVar.1
Natural variantiVAR_065309394A → S in HEMA. 1 Publication1
Natural variantiVAR_028522401W → G in HEMA. 1 Publication1
Natural variantiVAR_028523405I → F in HEMA. 1 Publication1
Natural variantiVAR_001094405I → S in HEMA; severe. Corresponds to variant dbSNP:rs28933670EnsemblClinVar.1
Natural variantiVAR_001095409E → G in HEMA; severe/moderate. 1 PublicationCorresponds to variant dbSNP:rs28933671EnsemblClinVar.1
Natural variantiVAR_028524412W → G in HEMA. 1 Publication1
Natural variantiVAR_028525412W → R in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs1234456704Ensembl.1
Natural variantiVAR_028526427K → I in HEMA; mild. 1 Publication1
Natural variantiVAR_001096431L → F in HEMA; moderate. Corresponds to variant dbSNP:rs28933672EnsemblClinVar.1
Natural variantiVAR_028527431L → S in HEMA; moderate. 1 Publication1
Natural variantiVAR_028528437R → P in HEMA; severe. 1 Publication1
Natural variantiVAR_028529437R → W in HEMA; mild. 1 Publication1
Natural variantiVAR_028530438I → F in HEMA; not severe. 1 PublicationCorresponds to variant dbSNP:rs1258333672Ensembl.1
Natural variantiVAR_028531439G → D in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs1362305882Ensembl.1
Natural variantiVAR_017335439G → S in HEMA; moderate. 2 Publications1
Natural variantiVAR_001097439G → V in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs1362305882Ensembl.1
Natural variantiVAR_028532442Y → C in HEMA. 1 PublicationCorresponds to variant dbSNP:rs1441830456Ensembl.1
Natural variantiVAR_001098444K → R in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs28937272EnsemblClinVar.1
Natural variantiVAR_028533450Y → D in HEMA; severe. 1 Publication1
Natural variantiVAR_001099450Y → N in HEMA; mild/moderate. 3 PublicationsCorresponds to variant dbSNP:rs111033616EnsemblClinVar.1
Natural variantiVAR_028534454T → I in HEMA; mild. 1 Publication1
Natural variantiVAR_028535455F → C in HEMA; mild-moderate/severe. 2 Publications1
Natural variantiVAR_028536466G → E in HEMA; severe sporadic. 1 PublicationCorresponds to variant dbSNP:rs1304348198Ensembl.1
Natural variantiVAR_028537470P → L in HEMA; mild. 2 PublicationsCorresponds to variant dbSNP:rs1240470740Ensembl.1
Natural variantiVAR_028538470P → R in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs1240470740Ensembl.1
Natural variantiVAR_028539470P → T in HEMA; mild sporadic. 3 Publications1
Natural variantiVAR_028540474G → E in HEMA. 1 Publication1
Natural variantiVAR_001100474G → R in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs1345538633Ensembl.1
Natural variantiVAR_065310474G → V in HEMA. 1 Publication1
Natural variantiVAR_028541475E → K in HEMA; moderate. 1 Publication1
Natural variantiVAR_028542477G → V in HEMA; moderate. 1 Publication1
Natural variantiVAR_028543478D → N in HEMA. 1 Publication1
Natural variantiVAR_028544479T → R in HEMA. 1
Natural variantiVAR_028545484F → C in HEMA. 1 Publication1
Natural variantiVAR_001101488A → G in HEMA; moderate. Corresponds to variant dbSNP:rs782485864Ensembl.1
Natural variantiVAR_028546490R → G in HEMA. 1 Publication1
Natural variantiVAR_001103492Y → C in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs137852412Ensembl.1
Natural variantiVAR_001102492Y → H in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852411Ensembl.1
Natural variantiVAR_001104494I → T in HEMA; mild. Corresponds to variant dbSNP:rs137852413EnsemblClinVar.1
Natural variantiVAR_065311496P → R in HEMA. 1 Publication1
Natural variantiVAR_001105498G → R in HEMA; severe/moderate. 4 PublicationsCorresponds to variant dbSNP:rs137852414EnsemblClinVar.1
Natural variantiVAR_028547503R → H in HEMA. 1 PublicationCorresponds to variant dbSNP:rs35383156EnsemblClinVar.1
Natural variantiVAR_028548513G → S in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs1269117966Ensembl.1
Natural variantiVAR_065312513G → V in HEMA. 1 Publication1
Natural variantiVAR_028549522I → Y in HEMA; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_017336529K → E in HEMA; moderate. 1 Publication1
Natural variantiVAR_028550532W → G in HEMA. 1 Publication1
Natural variantiVAR_028551540P → T in HEMA. 1 Publication1
Natural variantiVAR_028552541T → S in HEMA; mild. 3 PublicationsCorresponds to variant dbSNP:rs139526001EnsemblClinVar.1
Natural variantiVAR_001106544D → N in HEMA; moderate. Corresponds to variant dbSNP:rs137852415EnsemblClinVar.1
Natural variantiVAR_001107546R → W in HEMA; mild. 7 PublicationsCorresponds to variant dbSNP:rs137852416EnsemblClinVar.1
Natural variantiVAR_001108550R → C in HEMA; mild/moderate. 6 PublicationsCorresponds to variant dbSNP:rs137852417EnsemblClinVar.1
Natural variantiVAR_001109550R → G in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852417EnsemblClinVar.1
Natural variantiVAR_001110550R → H in HEMA; mild/moderate. 4 PublicationsCorresponds to variant dbSNP:rs137852418EnsemblClinVar.1
Natural variantiVAR_028553553S → P in HEMA; severe. 1 Publication1
Natural variantiVAR_028554554S → C in HEMA; moderate. 1 Publication1
Natural variantiVAR_001111554S → G in HEMA; mild. 2 PublicationsCorresponds to variant dbSNP:rs137852419EnsemblClinVar.1
Natural variantiVAR_001112556V → D in HEMA; moderate. 1
Natural variantiVAR_028555560R → T in HEMA; mild. 1 Publication1
Natural variantiVAR_028556561D → G in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852420EnsemblClinVar.1
Natural variantiVAR_028557561D → H in HEMA. 1 Publication1
Natural variantiVAR_008967561D → Y in HEMA; severe. 2 Publications1
Natural variantiVAR_017337567I → T in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs782193428EnsemblClinVar.1
Natural variantiVAR_065313569P → R in HEMA. 1 Publication1
Natural variantiVAR_001113577S → F in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs28937282EnsemblClinVar.1
Natural variantiVAR_028558578V → A in HEMA; mild. 1 Publication1
Natural variantiVAR_028559579D → A in HEMA; mild. 1 Publication1
Natural variantiVAR_028560579D → H in HEMA; mild. 1 Publication1
Natural variantiVAR_028561583N → S in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs782657516EnsemblClinVar.1
Natural variantiVAR_028562584Q → H in HEMA; mild. 1 Publication1
Natural variantiVAR_001114584Q → K in HEMA; moderate. Corresponds to variant dbSNP:rs137852422EnsemblClinVar.1
Natural variantiVAR_028563584Q → R in HEMA. 1 PublicationCorresponds to variant dbSNP:rs1354815715Ensembl.1
Natural variantiVAR_028564585I → R in HEMA; moderate-severe. 1 Publication1
Natural variantiVAR_001115585I → T in HEMA; severe/moderate. 1 PublicationCorresponds to variant dbSNP:rs137852376EnsemblClinVar.1
Natural variantiVAR_015129586M → V in HEMA; mild. 1 Publication1
Natural variantiVAR_028565588D → G in HEMA. 1 Publication1
Natural variantiVAR_028566588D → Y in HEMA. 1 Publication1
Natural variantiVAR_028567594L → Q in HEMA; mild. 1 Publication1
Natural variantiVAR_001116596S → P in HEMA; severe. Corresponds to variant dbSNP:rs137852423Ensembl.1
Natural variantiVAR_028568601N → D in HEMA. 1 PublicationCorresponds to variant dbSNP:rs1460318222Ensembl.1
Natural variantiVAR_028569601N → K in HEMA. 1 PublicationCorresponds to variant dbSNP:rs1299810903Ensembl.1
Natural variantiVAR_028570602R → G in HEMA; mild familial. 3 Publications1
Natural variantiVAR_001117603S → I in HEMA. Corresponds to variant dbSNP:rs137852425EnsemblClinVar.1
Natural variantiVAR_028571603S → R in HEMA; severe. 2 Publications1
Natural variantiVAR_001118604W → C in HEMA; severe. Corresponds to variant dbSNP:rs137852426EnsemblClinVar.1
Natural variantiVAR_028572605Y → H in HEMA. 1 Publication1
Natural variantiVAR_001119605Y → S in HEMA; severe. Corresponds to variant dbSNP:rs137852427EnsemblClinVar.1
Natural variantiVAR_028573609N → I in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs1253524555Ensembl.1
Natural variantiVAR_001120612R → C in HEMA; mild/moderate; secretion impaired. 11 PublicationsCorresponds to variant dbSNP:rs137852428EnsemblClinVar.1
Natural variantiVAR_001121631N → K in HEMA; severe. 1 Publication1
Natural variantiVAR_001122631N → S in HEMA. Corresponds to variant dbSNP:rs137852429EnsemblClinVar.1
Natural variantiVAR_028574633M → I in HEMA; mild. 1 Publication1
Natural variantiVAR_028575635S → N in HEMA; mild. 1 Publication1
Natural variantiVAR_028576637N → D in HEMA; severe sporadic/moderate. 2 Publications1
Natural variantiVAR_065314637N → I in HEMA. 1 Publication1
Natural variantiVAR_028577637N → S in HEMA; mild; secretion impaired. 1 Publication1
Natural variantiVAR_028578639Y → C in HEMA; moderate. 1 Publication1
Natural variantiVAR_001123644L → V in HEMA; mild. 1 Publication1
Natural variantiVAR_028579650L → F in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs1557280438Ensembl.1
Natural variantiVAR_001124653V → A in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852430EnsemblClinVar.1
Natural variantiVAR_001125653V → M in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852431EnsemblClinVar.1
Natural variantiVAR_028580659L → P in HEMA. 1 Publication1
Natural variantiVAR_001126663A → V in HEMA; mild. Corresponds to variant dbSNP:rs137852433EnsemblClinVar.1
Natural variantiVAR_028581664Q → P in HEMA; moderate-severe. 1 Publication1
Natural variantiVAR_001127671Missing in HEMA; severe. 1 Publication1
Natural variantiVAR_001128677F → L in HEMA; moderate. Corresponds to variant dbSNP:rs137852434EnsemblClinVar.1
Natural variantiVAR_028582681M → I in HEMA; mild. 1 Publication1
Natural variantiVAR_028583682V → F in HEMA. 1 PublicationCorresponds to variant dbSNP:rs1569559755EnsemblClinVar.1
Natural variantiVAR_028584683Y → C in HEMA; severe. 3 PublicationsCorresponds to variant dbSNP:rs1384374956Ensembl.1
Natural variantiVAR_028585683Y → N in HEMA; mild. 1 Publication1
Natural variantiVAR_028586686T → R in HEMA. 1 Publication1
Natural variantiVAR_028587698F → L in HEMA. 1 Publication1
Natural variantiVAR_028588699M → T in HEMA; mild. 1 Publication1
Natural variantiVAR_001129699M → V in HEMA; severe. 1 Publication1
Natural variantiVAR_028589701M → I in HEMA; mild. 1 Publication1
Natural variantiVAR_028590705G → V in HEMA; moderate. 1 Publication1
Natural variantiVAR_028591710G → W in HEMA. 1 Publication1
Natural variantiVAR_028592713N → I in HEMA; mild. 1 Publication1
Natural variantiVAR_028593717R → L in HEMA; mild. 1 Publication