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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
REV3L - REV3 Like, DNA Directed Polymerase Zeta Catalytic Subunit
Alias:
POLZ
REV3
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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DNA聚合酶ζ的催化亚基,在DNA损伤修复中起重要作用。这个蛋白质存在于线粒体中,保护DNA免受损伤。这个基因的缺陷是导致Mobius综合症的原因。[RefSeq,2017年1月提供]
Related ID:
NCBI:5980
ENSEMBL:ENSG00000009413
HGNC:9968
UNIPROT:O60673
OMIM:602776
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5980
16
32
184679 bp
352.78
183
1
18
9
REV3L 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
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Interactions
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Acting
Regulation
Detail
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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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