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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
IQGAP1 - IQ Motif Containing GTPase Activating Protein 1
Alias:
SAR1
p195
HUMORFA01
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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IQGAP家族的成员。蛋白质包含四个IQ结构域,一个calponin同源结构域,一个Ras-GAP结构域和一个WW结构域。它与细胞骨架组件,细胞粘附分子和几个信号分子相互作用,以调节细胞形态和迁移。在两个胃癌细胞系中,该蛋白质的表达因基因扩增而上调。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8826
ENSEMBL:ENSG00000140575
HGNC:6110
UNIPROT:P46940
OMIM:603379
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8826
2
38
113998 bp
189.25
58
--
6
24
IQGAP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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