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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
GLMN - Glomulin, FKBP Associated Protein
Alias:
FAP
GVM
GLML
FAP48
FAP68
FKBPAP
VMGLOM
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个磷酸化的蛋白质,是Skp1-Cullin-F-box样复合物的成员。该蛋白质对于血管的正常发育至关重要,该基因的突变已被发现与血管畸形有关,也称为血管瘤。已发现此基因的多个剪接变体可编码不同的等位基因。[由RefSeq提供,2016年2月]
Related ID:
NCBI:11146
ENSEMBL:ENSG00000174842
HGNC:14373
UNIPROT:Q92990
OMIM:601749
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11146
12
19
124443 bp
68.21
127
3
4
14
GLMN 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
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Acting
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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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