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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
VWF - Von Willebrand Factor
Alias:
VWD
F8VWF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种参与止血的糖蛋白。编码的前原前蛋白在组装成大型多聚复合物后经过蛋白水解加工。这些复合物在血小板粘附到血管损伤部位和血液中各种蛋白质的运输中发挥作用。这个基因的突变导致von Willebrand病,一种遗传性出血紊乱。一个未加工的假基因已经在染色体22上发现。[由RefSeq,2015年10月提供]
Related ID:
NCBI:7450
ENSEMBL:ENSG00000110799
HGNC:12726
UNIPROT:P04275
OMIM:613160
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7450
2
52
175794 bp
309.26
1356
5
18
63
VWF Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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