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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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HRAS - HRas Proto-oncogene, GTPase
Alias:
CTLO
HAMSV
HRAS1
RASH1
p21ras
C-H-RAS
H-RASIDX
C-BAS/HAS
C-HA-RAS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于Ras癌基因家族,其成员与哺乳动物肉瘤逆转录病毒的发生基因有关。这些基因编码的产物在信号传导途径中发挥作用。这些蛋白质可以结合GTP和GDP,并具有内在的GTP酶活性。这个蛋白质经历一个连续的去和再棕榈酰化的循环,这调节了它在质膜和高尔基器之间快速交换。这个基因的突变导致科斯特洛综合症,该疾病以产前阶段生长增加、出生后阶段生长不足、肿瘤形成的倾向、认知障碍、皮肤和肌肉骨骼异常、独特面部外观和心血管异常为特征。这个基因的缺陷与多种癌症有关,包括膀胱癌、滤泡性甲状腺癌和口腔鳞状细胞癌。已经在这个基因中鉴定出多种编码不同异型的转录变异体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:3265
ENSEMBL:ENSG00000174775
HGNC:5173
UNIPROT:P01112
OMIM:190020
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
3265
4
6
3335 bp
21.30
591
21
15
56
HRAS Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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