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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
RECQL - RecQ Like Helicase
Alias:
RecQ1
RECQL1
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Description
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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是RecQ DNA解旋酶家族的成员。DNA解旋酶是参与各种类型DNA修复的酶,包括错配修复、核苷酸切除修复和直接修复。编码的蛋白质参与霍尔迪交点的处理,姐妹染色单体交换的抑制,端粒维持,并且对基因毒性压力抵抗力是必需的。这个基因的缺陷与几种类型的癌症有关。[由RefSeq,2017年1月提供]
Related ID:
NCBI:5965
ENSEMBL:ENSG00000004700
HGNC:9948
UNIPROT:P46063
OMIM:600537
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5965
8
15
32726 bp
73.46
1300
1
4
13
RECQL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
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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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