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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
VAV1 - Vav Guanine Nucleotide Exchange Factor 1
Alias:
VAV
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是VAV基因家族的成员。VAV蛋白是Rho家族GTPases的鸟苷酸交换因子(GEFs),可激活导致肌动蛋白细胞骨架重新排列和转录改变的路径。编码的蛋白质在造血中发挥重要作用,参与T细胞和B细胞的发育和激活。已发现编码的蛋白质是HIV-1的Nef蛋白质的特定结合伙伴。这些伙伴的共同表达和结合启动显著的形态学变化、细胞骨架重新排列和JNK/SAPK信号级联,导致病毒转录和复制水平增加。已观察到这个基因的替代剪接转录变体编码多种异构体。[RefSeq,2012年4月提供]
Related ID:
NCBI:7409
ENSEMBL:ENSG00000141968
HGNC:12657
UNIPROT:P15498
OMIM:164875
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7409
4
27
84654 bp
98.31
334
--
18
24
VAV1 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
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Cell-specific RNA expression
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Type
Name
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Strain of Origin
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Related Drugs
Name
CAS Number
Status
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Link
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References Literature
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IF
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