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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
RAD54L - RAD54 Like
Alias:
HR54
hHR54
RAD54A
hRAD54
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于DEAD-like helicase超家族,并与已知参与同源重组和DNA修复的Saccharomyces cerevisiae Rad54蛋白具有相似性。该蛋白质已被证明在与DNA双链断裂相关的同源重组相关DNA修复中发挥作用。该蛋白质与双链DNA的结合诱导DNA拓扑结构的变化,这被认为有助于同源DNA配对,并刺激DNA重组。选择性剪接导致多种转录变体编码相同的蛋白质。[由RefSeq提供,2008年12月]
Related ID:
NCBI:8438
ENSEMBL:ENSG00000085999
HGNC:9826
UNIPROT:Q92698
OMIM:603615
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8438
3
18
30786 bp
84.35
839
5
10
14
RAD54L 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
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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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