VARIANT: 196527v1
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Entry
196527v1 Variant
Name
ANO6 mutation
Type
Loss of function
Gene
ANO6
anoctamin 6 [KO:
K19500
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
608663
Network
nt06535
Efferocytosis
Disease
H01162
Scott syndrome
Reference
PMID:
21107324
Authors
Suzuki J, Umeda M, Sims PJ, Nagata S
Title
Calcium-dependent phospholipid scrambling by TMEM16F.
Journal
Nature 468:834-8 (2010)
DOI:
10.1038/nature09583
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