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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
DIAPH3 - Diaphanous Related Formin 3
Alias:
AN
DIA2
DRF3
AUNA1
NSDAN
diap3
mDia2
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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formin家族中diaphanous亚家族的成员。这个家族的成员参与肌动蛋白重塑,并调节细胞运动和粘附。这个基因的突变与常染色体显性听觉神经病1有关。已经发现这个基因有多个编码不同异质体的转录变异体。[由RefSeq,2012年4月提供]
Related ID:
NCBI:81624
ENSEMBL:ENSG00000139734
HGNC:15480
UNIPROT:Q9NSV4
OMIM:614567
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
81624
14
28
498346 bp
136.93
333
2
8
10
DIAPH3 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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