RAB3GAP1 Chromosome 2
RAB3 GTPase activating protein catalytic subunit 1
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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
RAB3GAP1-related disorder, RAB3GAP1-related disorder
Health Risk
RS1574100501
Conflicting classifications of pathogenicity
Warburg micro syndrome 1, Warburg micro syndrome 1
Health Risk
RS199898437
Conflicting classifications of pathogenicity
RAB3GAP1-related disorder, RAB3GAP1-related disorder
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
RAB3GAP1-related disorder, Inborn genetic diseases, RAB3GAP1-related disorder
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
RAB3GAP1-related disorder, RAB3GAP1-related disorder
Health Risk
All Variants (79)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2468221175 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS2468262168 | Health Risk | Pathogenic | — |
| RS2468283673 | Health Risk | Pathogenic | Martsolf syndrome 2, Martsolf syndrome 2 |
| RS2468291953 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS267606996 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS532964185 | Health Risk | Pathogenic | Warburg micro syndrome 1, Martsolf syndrome 2, Inborn genetic diseases |
| RS587776651 | Health Risk | Pathogenic | Warburg micro syndrome 1, Inborn genetic diseases, Warburg micro syndrome 1 |
| RS587777152 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS587777153 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS587777154 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS587777155 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS730882182 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS730882183 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS730882184 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS752667359 | Health Risk | Pathogenic | Inborn genetic diseases, RAB3GAP1-related disorder, Inborn genetic diseases |
| RS757393692 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS764260054 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS766629205 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS772842361 | Health Risk | Pathogenic | — |
| RS779312077 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS797045905 | Health Risk | Pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS886043201 | Health Risk | Pathogenic | — |
| RS886043202 | Health Risk | Pathogenic | — |
| RS1064794536 | Health Risk | Pathogenic/Likely pathogenic | Warburg micro syndrome 1, RAB3GAP1-related disorder, Warburg micro syndrome 1 |
| RS145829300 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1553444644 | Health Risk | Pathogenic/Likely pathogenic | Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS2468214371 | Health Risk | Pathogenic/Likely pathogenic | RAB3GAP1-related disorder, RAB3GAP1-related disorder |
| RS749616608 | Health Risk | Pathogenic/Likely pathogenic | RAB3GAP1-related disorder, RAB3GAP1-related disorder |
| RS794727324 | Health Risk | Pathogenic/Likely pathogenic | — |