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Protein

Coagulation factor VIII

Gene

F8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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.

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-114608. Platelet degranulation.
R-HSA-140837. Intrinsic Pathway of Fibrin Clot Formation.
R-HSA-140875. Common Pathway of Fibrin Clot Formation.
R-HSA-204005. COPII (Coat Protein 2) Mediated Vesicle Transport.
R-HSA-5694530. Cargo concentration in the ER.
SABIO-RKP00451.

Names & Taxonomyi

Protein namesi
Recommended name:
Coagulation factor VIII
Alternative name(s):
Antihemophilic factor
Short name:
AHF
Procoagulant component
Cleaved into the following 4 chains:
Gene namesi
Name:F8
Synonyms:F8C
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:3546. F8.

Subcellular locationi

GO - Cellular componenti

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Hemophilia A (HEMA)80 Publications
The disease is caused by mutations 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.
See also OMIM:306700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs137852377Ensembl.1
Natural variantiVAR_00104630E → V in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852378Ensembl.1
Natural variantiVAR_02845233W → G in HEMA; moderate. 1 Publication1
Natural variantiVAR_02845335Y → C in HEMA; mild/severe. 1 PublicationCorresponds to variant dbSNP:rs137852476Ensembl.1
Natural variantiVAR_02845435Y → H in HEMA; severe. 1 Publication1
Natural variantiVAR_00104741G → C in HEMA; severe/moderate. Corresponds to variant dbSNP:rs137852379Ensembl.1
Natural variantiVAR_00104848R → C in HEMA; severe. 1
Natural variantiVAR_02845548R → K in HEMA. 1 Publication1
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 Publication1
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:rs137852380Ensembl.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:rs28935204Ensembl.1
Natural variantiVAR_01733197A → P in HEMA. 1 Publication1
Natural variantiVAR_02846598E → K in HEMA; severe. 1 Publication1
Natural variantiVAR_00105299V → D in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs28935205Ensembl.1
Natural variantiVAR_028466101D → G in HEMA; severe. 1 Publication1
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:rs28935206Ensembl.1
Natural variantiVAR_001054108K → T in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs28935207Ensembl.1
Natural variantiVAR_001055110M → V in HEMA; moderate. 1 PublicationCorresponds to variant dbSNP:rs28936083Ensembl.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:rs28935208Ensembl.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:rs137852387Ensembl.1
Natural variantiVAR_001059132E → D in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs28935209Ensembl.1
Natural variantiVAR_001060133Y → C in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs28935210Ensembl.1
Natural variantiVAR_001061135D → G in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs28935211Ensembl.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:rs137852391Ensembl.1
Natural variantiVAR_028477138S → R in HEMA; mild. 1 Publication1
Natural variantiVAR_028478141E → K in HEMA; severe familial. 1 Publication1
Natural variantiVAR_028479145D → H in HEMA; moderate. 1 Publication1
Natural variantiVAR_028480147V → D in HEMA; severe. 1 Publication1
Natural variantiVAR_017332155Y → H in HEMA; moderate. 1 Publication1
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 Publication1
Natural variantiVAR_001063164G → V in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs28935212Ensembl.1
Natural variantiVAR_001064165P → S in HEMA; severe. Corresponds to variant dbSNP:rs28935213Ensembl.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 Publication1
Natural variantiVAR_017333181V → E in HEMA; mild. 1 Publication1
Natural variantiVAR_001065181V → M in HEMA; mild/moderate. 6 PublicationsCorresponds to variant dbSNP:rs137852394Ensembl.1
Natural variantiVAR_001066185K → T in HEMA; mild. Corresponds to variant dbSNP:rs137852395Ensembl.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:rs137852367Ensembl.1
Natural variantiVAR_065305191L → F in HEMA. 1 Publication1
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:rs137852475Ensembl.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:rs137852396Ensembl.1
Natural variantiVAR_028497223E → K in HEMA; severe. 1 Publication1
Natural variantiVAR_001069224G → W in HEMA; moderate. Corresponds to variant dbSNP:rs137852397Ensembl.1
Natural variantiVAR_028498252T → I in HEMA; moderate. 1 Publication1
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:rs137852398Ensembl.1
Natural variantiVAR_028501267C → Y in HEMA; moderate. 1 Publication1
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:rs137852399Ensembl.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:rs137852400Ensembl.1
Natural variantiVAR_001074291E → G in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852359Ensembl.1
Natural variantiVAR_028505291E → K in HEMA; mild. 4 Publications1
Natural variantiVAR_001075294T → I in HEMA; moderate. Corresponds to variant dbSNP:rs137852401Ensembl.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:rs28935215Ensembl.1
Natural variantiVAR_028508301R → C in HEMA; severe/mild. 4 Publications1
Natural variantiVAR_001077301R → H in HEMA; severe. 4 PublicationsCorresponds to variant dbSNP:rs28935216Ensembl.1
Natural variantiVAR_001078301R → L in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852403Ensembl.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:rs28937268Ensembl.1
Natural variantiVAR_001080312F → S in HEMA; mild/moderate. 2 PublicationsCorresponds to variant dbSNP:rs137852405Ensembl.1
Natural variantiVAR_001081314T → A in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs28937269Ensembl.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:rs28937270Ensembl.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 Publication1
Natural variantiVAR_001085345V → L in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs137852371Ensembl.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:rs137852410Ensembl.1
Natural variantiVAR_001088348C → Y in HEMA; mild/severe. 1 Publication1
Natural variantiVAR_028521365Y → C in HEMA; mild. 2 PublicationsCorresponds to variant dbSNP:rs375241473Ensembl.1
Natural variantiVAR_001089391R → C in HEMA; Okayama; moderate/severe; abolishes the normal cleavage by thrombin. 4 PublicationsCorresponds to variant dbSNP:rs137852364Ensembl.1
Natural variantiVAR_001090391R → H in HEMA; Kumamoto; mild/moderate; abolishes the normal cleavage by thrombin. 5 PublicationsCorresponds to variant dbSNP:rs28935499Ensembl.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:rs28933668Ensembl.1
Natural variantiVAR_001093392S → P in HEMA; mild. Corresponds to variant dbSNP:rs28933669Ensembl.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:rs28933670Ensembl.1
Natural variantiVAR_001095409E → G in HEMA; severe/moderate. 1 PublicationCorresponds to variant dbSNP:rs28933671Ensembl.1
Natural variantiVAR_028524412W → G in HEMA. 1 Publication1
Natural variantiVAR_028525412W → R in HEMA; severe. 1 Publication1
Natural variantiVAR_028526427K → I in HEMA; mild. 1 Publication1
Natural variantiVAR_001096431L → F in HEMA; moderate. Corresponds to variant dbSNP:rs28933672Ensembl.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 Publication1
Natural variantiVAR_028531439G → D in HEMA; severe. 1 Publication1
Natural variantiVAR_017335439G → S in HEMA; moderate. 2 Publications1
Natural variantiVAR_001097439G → V in HEMA; severe. 2 Publications1
Natural variantiVAR_028532442Y → C in HEMA. 1 Publication1
Natural variantiVAR_001098444K → R in HEMA; severe. 1 PublicationCorresponds to variant dbSNP:rs28937272Ensembl.1
Natural variantiVAR_028533450Y → D in HEMA; severe. 1 Publication1
Natural variantiVAR_001099450Y → N in HEMA; mild/moderate. 3 PublicationsCorresponds to variant dbSNP:rs28937273Ensembl.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 Publication1
Natural variantiVAR_028537470P → L in HEMA; mild. 2 Publications1
Natural variantiVAR_028538470P → R in HEMA; mild. 1 Publication1
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 Publication1
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:rs28937275Ensembl.1
Natural variantiVAR_001102492Y → H in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs28937274Ensembl.1
Natural variantiVAR_001104494I → T in HEMA; mild. Corresponds to variant dbSNP:rs28936968Ensembl.1
Natural variantiVAR_065311496P → R in HEMA. 1 Publication1
Natural variantiVAR_001105498G → R in HEMA; severe/moderate. 4 PublicationsCorresponds to variant dbSNP:rs28936969Ensembl.1
Natural variantiVAR_028547503R → H in HEMA. 1 PublicationCorresponds to variant dbSNP:rs35383156Ensembl.1
Natural variantiVAR_028548513G → S in HEMA; moderate. 1 Publication1
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:rs139526001Ensembl.1
Natural variantiVAR_001106544D → N in HEMA; moderate. Corresponds to variant dbSNP:rs28937276Ensembl.1
Natural variantiVAR_001107546R → W in HEMA; mild. 7 PublicationsCorresponds to variant dbSNP:rs28937277Ensembl.1
Natural variantiVAR_001108550R → C in HEMA; mild/moderate. 6 PublicationsCorresponds to variant dbSNP:rs28937278Ensembl.1
Natural variantiVAR_001109550R → G in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852417Ensembl.1
Natural variantiVAR_001110550R → H in HEMA; mild/moderate. 4 PublicationsCorresponds to variant dbSNP:rs28937279Ensembl.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:rs137852419Ensembl.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:rs137852420Ensembl.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:rs782193428Ensembl.1
Natural variantiVAR_065313569P → R in HEMA. 1 Publication1
Natural variantiVAR_001113577S → F in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs28937282Ensembl.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:rs782657516Ensembl.1
Natural variantiVAR_028562584Q → H in HEMA; mild. 1 Publication1
Natural variantiVAR_001114584Q → K in HEMA; moderate. Corresponds to variant dbSNP:rs137852422Ensembl.1
Natural variantiVAR_028563584Q → R in HEMA. 1 Publication1
Natural variantiVAR_028564585I → R in HEMA; moderate-severe. 1 Publication1
Natural variantiVAR_001115585I → T in HEMA; severe/moderate. 1 PublicationCorresponds to variant dbSNP:rs137852376Ensembl.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 Publication1
Natural variantiVAR_028569601N → K in HEMA. 1 Publication1
Natural variantiVAR_028570602R → G in HEMA; mild familial. 3 Publications1
Natural variantiVAR_001117603S → I in HEMA. Corresponds to variant dbSNP:rs137852425Ensembl.1
Natural variantiVAR_028571603S → R in HEMA; severe. 2 Publications1
Natural variantiVAR_001118604W → C in HEMA; severe. Corresponds to variant dbSNP:rs137852426Ensembl.1
Natural variantiVAR_028572605Y → H in HEMA. 1 Publication1
Natural variantiVAR_001119605Y → S in HEMA; severe. Corresponds to variant dbSNP:rs137852427Ensembl.1
Natural variantiVAR_028573609N → I in HEMA; moderate. 1 Publication1
Natural variantiVAR_001120612R → C in HEMA; mild/moderate; secretion impaired. 11 PublicationsCorresponds to variant dbSNP:rs137852428Ensembl.1
Natural variantiVAR_001121631N → K in HEMA; severe. 1 Publication1
Natural variantiVAR_001122631N → S in HEMA. Corresponds to variant dbSNP:rs137852429Ensembl.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 Publication1
Natural variantiVAR_001124653V → A in HEMA; mild. 1 PublicationCorresponds to variant dbSNP:rs137852430Ensembl.1
Natural variantiVAR_001125653V → M in HEMA; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852431Ensembl.1
Natural variantiVAR_028580659L → P in HEMA. 1 Publication1
Natural variantiVAR_001126663A → V in HEMA; mild. Corresponds to variant dbSNP:rs137852433Ensembl.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:rs137852434Ensembl.1
Natural variantiVAR_028582681M → I in HEMA; mild. 1 Publication1
Natural variantiVAR_028583682V → F in HEMA. 1 Publication1
Natural variantiVAR_028584683Y → C in HEMA; severe. 3 Publications1
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 Publication