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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
PARVA - Parvin Alpha
Alias:
MXRA2
CH-ILKBP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肌动蛋白结合蛋白parvin家族的一员。Parvins与焦点接触相关,并含有与肌动蛋白丝结合的calponin同源结构域。编码的蛋白质是整合素连接的激酶信号复合体的一部分,并在细胞粘附、运动和生存中发挥作用。[由RefSeq,2010年12月提供]
Related ID:
NCBI:55742
ENSEMBL:ENSG00000197702
HGNC:14652
UNIPROT:Q9NVD7
OMIM:608120
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55742
2
13
158921 bp
42.24
12
--
4
21
PARVA 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
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Residues
Reference
Score
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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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