About: uniprot:annotation/VAR

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About: uniprot:annotation/VAR_012500 Goto Sponge NotDistinct Permalink

An Entity of Type : uniprot:core/Natural_Variant_Annotation, within Data Space : wasabi.inria.fr associated with source document(s)

In STGD1; does not affect intracellular vesicle localization; does not affect solubility; significantly reduces N-Ret-PE binding; drastically reduces basal ATPase activity with little or no all trans retinal stimulation.

Attributes	Values
type	uniprot:core/Natural_Variant_Annotation
comment	In STGD1; does not affect intracellular vesicle localization; does not affect solubility; significantly reduces N-Ret-PE binding; drastically reduces basal ATPase activity with little or no all trans retinal stimulation.
seeAlso	uniprot:dbsnp/rs61751412
described by	https://covidontheweb.inria.fr:4443/about/id/entity/http/identifiers.org/uniprot/P78363
has related	uniprot:diseases/1084
uniprot:core/range	uniprot:range/22578712653738798tt72tt72
uniprot:core/substitution	R
is topic of	http://identifiers.org/uniprot/P78363
is object of	uniprot:uniprot/#_kb.P78363_up.annotation_a.VAR_012500
is uniprot:core/annotation of	uniprot:uniprot/P78363

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