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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
VKORC1 - Vitamin K Epoxide Reductase Complex Subunit 1
Alias:
VKOR
MST134
MST576
VKCFD2
EDTP308
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码维生素K环氧化物还原酶复合物的催化亚基,负责将活性维生素K 2,3-环氧化物还原为内质网膜中的活性维生素K。维生素K是维生素K依赖性γ-羧化酶在凝血酶中谷氨酸残基羧基化的必需辅因子。这个基因的等位基因变异与维生素K依赖的凝血因子2合并缺陷以及对华法林的抵抗或敏感性增加,华法林是维生素K环氧化物还原酶的抑制剂。这个基因的假基因位于染色体1和X上。可变剪接导致多个转录变异体。[RefSeq,2015年8月提供]
Related ID:
NCBI:79001
ENSEMBL:ENSG00000167397
HGNC:23663
UNIPROT:Q9BQB6
OMIM:608547
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79001
3
3
3944 bp
18.23
45
3
7
17
VKORC1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Type
Name
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Mutations
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CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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