VARIANT: 3674v2
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Entry
3674v2 Variant
Name
ITGA2B gain-of-function mutation
Type
Gain of function
Gene
ITGA2B
integrin subunit alpha 2b [KO:
K06476
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
607759
Network
nt06548
Integrin signaling
Disease
H01235
Bleeding disorder platelet-type
Reference
PMID:
21454453
Authors
Kunishima S, Kashiwagi H, Otsu M, Takayama N, Eto K, Onodera M, Miyajima Y, Takamatsu Y, Suzumiya J, Matsubara K, Tomiyama Y, Saito H
Title
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the alphaIIbbeta3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia.
Journal
Blood 117:5479-84 (2011)
DOI:
10.1182/blood-2010-12-323691
LinkDB
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DBGET
integrated database retrieval system
