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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
BANK1 - B Cell Scaffold Protein With Ankyrin Repeats 1
Alias:
BANK
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种B细胞特异性的骨架蛋白,在B细胞受体诱导的细胞内钙储存动员中发挥作用。这个蛋白质还可以促进Lyn介导的1,4,5-三磷酸肌醇受体酪氨酸磷酸化。这个基因的多态性与系统性红斑狼疮的易感性有关。可变剪接导致多个转录变异体。[由RefSeq,2009年10月提供]
Related ID:
NCBI:55024
ENSEMBL:ENSG00000153064
HGNC:18233
UNIPROT:Q8NDB2
OMIM:610292
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55024
3
17
284083 bp
89.28
34
1
3
6
BANK1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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No data available
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