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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
EGFR - Epidermal Growth Factor Receptor
Alias:
ERBB
ERRP
HER1
mENA
ERBB1
PIG61
NISBD2
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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跨膜糖蛋白,属于蛋白激酶超家族成员。这个蛋白质是表皮生长因子家族的受体。EGFR 是一种细胞表面蛋白质,与表皮生长因子结合,从而诱导受体二聚化和酪氨酸自磷酸化,导致细胞增殖。这个基因的突变与肺癌有关。EGFR 是细胞因子风暴的成分,细胞因子风暴有助于由严重急性呼吸综合症冠状病毒-2(SARS-CoV-2)感染引起的2019年冠状病毒病(COVID-19)的严重形式。[由RefSeq,2020年7月提供]
Related ID:
NCBI:1956
ENSEMBL:ENSG00000146648
HGNC:3236
UNIPROT:P00533
OMIM:131550
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1956
11
28
192612 bp
134.28
2462
9
24
112
EGFR Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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References Literature
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