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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
CALM1 - Calmodulin 1
Alias:
caM
CAM2
CAM3
CAMB
CAMC
CAMI
PHKD
CPVT4
DD132
LQT14
PHKD1
CALML2
CAMIII
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码三种钙调蛋白之一,它们是EF手钙结合蛋白家族的成员。钙诱导的钙调蛋白激活调节并调节心脏离子通道的功能。在染色体7和X上已经发现了两个假基因。已经发现这个基因有多个编码不同异型的转录变异体。CALM1基因中的错义突变与室性心动过速有关。[RefSeq提供,2020年5月]
Related ID:
NCBI:801
ENSEMBL:ENSG00000198668
HGNC:1442
UNIPROT:P0DP23
OMIM:114180
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
801
3
6
11767 bp
16.84
125
4
5
76
CALM1 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
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Interactions
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Acting
Regulation
Detail
Mechanism
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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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