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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
ARHGEF40 - Rho Guanine Nucleotide Exchange Factor 40
Alias:
SOLO
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与Rho GTPases的鸟苷酸交换因子相似的蛋白质。编码的蛋白质在其C端含有一个参与交换活性的GEF结构域和一个plckstrin同源结构域。已经描述了编码不同蛋白质的可变剪接转录本。[由RefSeq,2014年3月提供]
Related ID:
NCBI:55701
ENSEMBL:ENSG00000165801
HGNC:25516
UNIPROT:Q8TER5
OMIM:610018
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55701
8
24
28985 bp
164.66
76
--
3
12
ARHGEF40 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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References Literature
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