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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
PF4V1 - Platelet Factor 4 Variant 1
Alias:
PF4A
CXCL4L1
CXCL4V1
PF4-ALT
SCYB4V1
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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一种高度类似于血小板因子4的趋化因子。编码的蛋白质具有强烈的抗血管生成功能,并受到趋化素(C-X-C基序)受体3的调节。这种蛋白质还能抑制肿瘤生长,并可以保护糖尿病患者免受血-视网膜屏障破裂的影响。[RefSeq,2015年11月提供]
Related ID:
NCBI:5197
ENSEMBL:ENSG00000109272
HGNC:8862
UNIPROT:P10720
OMIM:173461
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5197
1
3
1188 bp
11.55
4
--
7
5
PF4V1 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
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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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