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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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RAPGEF6 - Rap Guanine Nucleotide Exchange Factor 6
Alias:
RAGEF2
PDZGEF2
KIA001LB
PDZ-GEF2
RA-GEF-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
具有多种功能,包括依赖GTP的蛋白质结合活性;鸟苷酸交换因子活性;和磷脂酸结合活性。参与微绒毛组装;GTP酶活性的正向调节;和蛋白质定位到质膜。位于几个细胞组件中,包括顶质膜;中心体;和内吞囊泡。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:51735
ENSEMBL:ENSG00000158987
HGNC:20655
UNIPROT:Q8TEU7
OMIM:610499
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51735
6
28
211309 bp
179.42
64
--
4
7
RAPGEF6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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