VARIANT: 5062v1
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Entry
5062v1 Variant
Name
PAK2 mutation
Type
Loss of function
Gene
PAK2
p21 (RAC1) activated kinase 2 [KO:
K04410
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
605022
Network
nt06546
IgSF CAM signaling
Disease
H02074
Knobloch syndrome
Reference
PMID:
33693784
Authors
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuzelova K, Santoni FA
Title
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
Journal
Hum Mol Genet 31:1-9 (2021)
DOI:
10.1093/hmg/ddab026
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integrated database retrieval system
