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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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人类
ARFGEF1 - ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 1
Alias:
BIG1
P200
DEDISB
ARFGEP1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
ADP-核糖基化因子(ARFs)在细胞内泡囊运输中扮演重要角色。这个基因编码的蛋白质参与通过加速结合的GDP替换为GTP来激活ARFs。它包含一个Sec7结构域,这可能负责鸟苷酸交换活性和勃莱菲啶A抑制。[RefSeq提供,2011年8月]
Related ID:
NCBI:10565
ENSEMBL:ENSG00000066777
HGNC:15772
UNIPROT:Q9Y6D6
OMIM:604141
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10565
16
39
170271 bp
208.77
314
2
7
34
ARFGEF1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
No data available
References Literature
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