Results for the protein: NP

Results for the Protein: NP_063916

10518506

2157

F8

NCBI

coagulation factor VIII isoform b [Homo sapiens]

Known Diseases associated with this Protein:
HEMOPHILIA A

25

1

25

1

0

Tips:

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Default View: FA58C - smart00231 FA58C - cd00057 F5_F8_type_C - pfam00754	RefSeq Protein: NP_063916 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
F5_F8_type_C	pfam00754	2.3e-41	73	207
FA58C	smart00231	1.1e-38	57	210

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1800297	Polymorphism	p.MET122VAL	N/A
OMIM	300841.0239	Disease	p.ALA57PRO	HEMOPHILIA A
OMIM	300841.0250	Disease	p.ARG169CYS	HEMOPHILIA A
OMIM	300841.0234	Disease	p.ARG24CYS	HEMOPHILIA A
OMIM	300841.0238	Disease	p.ARG28CYS	HEMOPHILIA A
OMIM	300841.0042	Disease	p.ARG172GLN	HEMOPHILIA A
OMIM	300841.0014	Disease	p.ARG74GLN	HEMOPHILIA A
OMIM	300841.0242	Disease	p.ARG74GLY	HEMOPHILIA A
OMIM	300841.0231	Disease	p.ARG15HIS	HEMOPHILIA A
OMIM	300841.0251	Disease	p.ARG169HIS	HEMOPHILIA A
OMIM	300841.0236	Disease	p.ARG24HIS	HEMOPHILIA A
OMIM	300841.0237	Disease	p.ARG28HIS	HEMOPHILIA A
OMIM	300841.0025	Disease	p.ARG172LEU	HEMOPHILIA A
OMIM	300841.0235	Disease	p.ARG24LEU	HEMOPHILIA A
OMIM	300841.0241	Disease	p.ARG74LEU	HEMOPHILIA A
OMIM	300841.0012	Disease	p.ARG12TER	HEMOPHILIA A
OMIM	300841.0001	Disease	p.ARG172TER	HEMOPHILIA A
OMIM	300841.0002	Disease	p.ARG74TER	HEMOPHILIA A
OMIM	300841.0245	Disease	p.GLN111ARG	HEMOPHILIA A
OMIM	300841.0247	Disease	p.GLN135TER	HEMOPHILIA A
OMIM	300841.0043	Disease	p.LEU31SER	HEMOPHILIA A
OMIM	300841.0232	Disease	p.PRO18GLN	HEMOPHILIA A
OMIM	300841.0249	Disease	p.PRO165LEU	HEMOPHILIA A
OMIM	300841.0064	Disease	p.PRO165SER	HEMOPHILIA A
OMIM	300841.0233	Disease	p.THR19ILE	HEMOPHILIA A
OMIM	300841.0244	Disease	p.TRP94CYS	HEMOPHILIA A

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