RAB3GAP1 Chromosome 2

RAB3 GTPase activating protein catalytic subunit 1

79 variants 79 Health Risk

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What This Gene Does

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

Associated Conditions (7)

Warburg micro syndrome 1

RAB3GAP1-related disorder

Inborn genetic diseases

Warburg micro syndrome

Martsolf syndrome

Martsolf syndrome 2

18 conditions

Key Variants

RS140929274

Conflicting classifications of pathogenicity

Warburg micro syndrome 1, Warburg micro syndrome 1

Health Risk

RS143010678

Conflicting classifications of pathogenicity

Warburg micro syndrome 1, Warburg micro syndrome 1

Health Risk

RS144455066

Conflicting classifications of pathogenicity

Health Risk

RS1574100501

Conflicting classifications of pathogenicity

Warburg micro syndrome 1, Warburg micro syndrome 1

Health Risk

RS199898437

Conflicting classifications of pathogenicity

Health Risk

RS371275629

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS550325115

Conflicting classifications of pathogenicity

Health Risk

RS577915245

Conflicting classifications of pathogenicity

Health Risk

RS7564566

Conflicting classifications of pathogenicity

Warburg micro syndrome 1, Warburg micro syndrome 1

Health Risk

RS767842373

Conflicting classifications of pathogenicity

Warburg micro syndrome 1, RAB3GAP1-related disorder, Warburg micro syndrome 1

Health Risk

RS770933323

Conflicting classifications of pathogenicity

Health Risk

RS77535003

Conflicting classifications of pathogenicity

Health Risk

All Variants (79)

RSID	Category	Clinical Significance	Conditions
RS140929274	Health Risk	Conflicting classifications of pathogenicity	Warburg micro syndrome 1, Warburg micro syndrome 1
RS143010678	Health Risk	Conflicting classifications of pathogenicity	Warburg micro syndrome 1, Warburg micro syndrome 1
RS144455066	Health Risk	Conflicting classifications of pathogenicity	RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS1574100501	Health Risk	Conflicting classifications of pathogenicity	Warburg micro syndrome 1, Warburg micro syndrome 1
RS199898437	Health Risk	Conflicting classifications of pathogenicity	RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS371275629	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS550325115	Health Risk	Conflicting classifications of pathogenicity	—
RS577915245	Health Risk	Conflicting classifications of pathogenicity	RAB3GAP1-related disorder, Inborn genetic diseases, RAB3GAP1-related disorder
RS7564566	Health Risk	Conflicting classifications of pathogenicity	Warburg micro syndrome 1, Warburg micro syndrome 1
RS767842373	Health Risk	Conflicting classifications of pathogenicity	Warburg micro syndrome 1, RAB3GAP1-related disorder, Warburg micro syndrome 1
RS770933323	Health Risk	Conflicting classifications of pathogenicity	—
RS77535003	Health Risk	Conflicting classifications of pathogenicity	RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS776042162	Health Risk	Conflicting classifications of pathogenicity	—
RS886044622	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1224313284	Health Risk	Likely pathogenic	RAB3GAP1-related disorder, RAB3GAP1-related disorder
RS1231893162	Health Risk	Likely pathogenic	—
RS1463361799	Health Risk	Likely pathogenic	—
RS1558805679	Health Risk	Likely pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS2104879312	Health Risk	Likely pathogenic	Warburg micro syndrome, Warburg micro syndrome
RS2104943498	Health Risk	Likely pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS2468179387	Health Risk	Likely pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS2468218951	Health Risk	Likely pathogenic	—
RS2468221393	Health Risk	Likely pathogenic	—
RS2468261989	Health Risk	Likely pathogenic	—
RS2468278781	Health Risk	Likely pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS2468278834	Health Risk	Likely pathogenic	—
RS1205637557	Health Risk	Pathogenic	—
RS1282248700	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS1310680343	Health Risk	Pathogenic	—
RS137853052	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS137853053	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1553437083	Health Risk	Pathogenic	Martsolf syndrome, Martsolf syndrome 2, Martsolf syndrome
RS1558782178	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558792168	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558792256	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558805781	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1558805900	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1573578824	Health Risk	Pathogenic	—
RS1573584395	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1573585099	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1573623087	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS1690127143	Health Risk	Pathogenic	18 conditions, 18 conditions
RS1690872807	Health Risk	Pathogenic	—
RS1691647986	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS2104916488	Health Risk	Pathogenic	Warburg micro syndrome 1, Martsolf syndrome 2, Warburg micro syndrome 1
RS2104948584	Health Risk	Pathogenic	—
RS2104983369	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1
RS2105001159	Health Risk	Pathogenic	Martsolf syndrome 2, Martsolf syndrome 2
RS2468046869	Health Risk	Pathogenic	—
RS2468218576	Health Risk	Pathogenic	Warburg micro syndrome 1, Warburg micro syndrome 1

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