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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
VAMP1 - Vesicle Associated Membrane Protein 1
Alias:
SAX1
SYB1
CMS25
SPAX1
VAMP-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
突触小泡与突触前膜的对接和/或融合主要涉及蛋白质复合物的成分,包括Synapotobrevins、syntaxins和突触相关蛋白SNAP25。此基因编码的蛋白质是囊泡相关膜蛋白(VAMP)/突触蛋白家族的成员。此基因的突变与常染色体显性痉挛性共济失调1有关。已描述了多种替代剪接变异体,但某些变异体的完整长度尚未确定。[RefSeq,2014年7月提供]
Related ID:
NCBI:6843
ENSEMBL:ENSG00000139190
HGNC:12642
UNIPROT:P23763
OMIM:185880
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6843
4
5
8441 bp
12.90
88
5
2
11
VAMP1 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
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Interactions
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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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