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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
RAD51C - RAD51 Paralog C
Alias:
FANCO
R51H3
BROVCA3
RAD51L2
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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RAD51家族的成员。RAD51家族成员与细菌RecA和酿酒酵母Rad51高度相似,已知它们参与DNA的同源重组和修复。这个蛋白可以与其他RAD51同源基因相互作用,据报道对霍利迪关节解决很重要。这个基因的突变与Fanconi贫血样综合征有关。这个基因是位于染色体17q23区域的四个基因之一,该区域的扩增在乳腺癌肿瘤中频繁发生。扩增过程中这四个基因的过度表达已经被观察到,这表明它们在肿瘤进展中可能发挥作用。可变剪接导致多个转录变异体。[由RefSeq,2013年7月提供]
Related ID:
NCBI:5889
ENSEMBL:ENSG00000108384
HGNC:9820
UNIPROT:O43502
OMIM:602774
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5889
7
9
43039 bp
42.19
1734
9
7
29
RAD51C Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
Protein
Length(aa)
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* 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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Mutations
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CAS Number
Status
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Link
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References Literature
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IF
No Data Found!
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