Disease: Autistic Disorder ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1475617034
rs1475617034
Entrez Id: 22999
Gene Symbol: RIMS1
RIMS1
CUI: C0004352
Disease:
Autistic Disorder 		0.010 GeneticVariation BEFREE Here, by introducing corresponding autism-associated mutations that replace glutamic acid residue 176 with alanine (E176A) and methionine residue 259 with valine (M259V) into the C2B domain of mouse RIM3, we demonstrate that both mutations partly cancel the suppressive RIM3 effect on voltage-dependent inactivation of Ba(2+) currents through P/Q-type CaV2.1 recombinantly expressed in HEK293 cells. 26142343 2015