RASGRP1 Chromosome 15
RAS guanyl releasing protein 1
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What This Gene Does
This gene is a member of a family of genes characterized by the presence of a Ras superfamily guanine nucleotide exchange factor (GEF) domain. It functions as a diacylglycerol (DAG)-regulated nucleotide exchange factor specifically activating Ras through the exchange of bound GDP for GTP. It activates the Erk/MAP kinase cascade and regulates T-cells and B-cells development, homeostasis and differentiation. Alternatively spliced transcript variants encoding different isoforms have been identified. Altered expression of the different isoforms of this protein may be a cause of susceptibility to systemic lupus erythematosus (SLE). [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"EF-hand domain containing|RAS guanyl releasing proteins"
Locus Type
gene with protein product
Location
15q14
Ensembl
ENSG00000172575
Associated Conditions (1)
Immunodeficiency 64
Key Variants
RS202243185
Conflicting classifications of pathogenicity
Health Risk
RS369162228
Conflicting classifications of pathogenicity
Health Risk
RS773884209
Conflicting classifications of pathogenicity
Health Risk
RS2542860738
Likely pathogenic
Health Risk
RS2542871866
Likely pathogenic
Immunodeficiency 64, Immunodeficiency 64
Health Risk
RS2542918050
Likely pathogenic
Health Risk
RS754690619
Likely pathogenic
Health Risk
RS1408683294
Pathogenic
Immunodeficiency 64, Immunodeficiency 64
Health Risk
RS1595816926
Pathogenic
Immunodeficiency 64, Immunodeficiency 64
Health Risk
RS1595843113
Pathogenic
Immunodeficiency 64, Immunodeficiency 64
Health Risk
RS1595848141
Pathogenic
Immunodeficiency 64, Immunodeficiency 64
Health Risk
RS1893731693
Pathogenic
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202243185 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369162228 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773884209 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2542860738 | Health Risk | Likely pathogenic | — |
| RS2542871866 | Health Risk | Likely pathogenic | Immunodeficiency 64, Immunodeficiency 64 |
| RS2542918050 | Health Risk | Likely pathogenic | — |
| RS754690619 | Health Risk | Likely pathogenic | — |
| RS1408683294 | Health Risk | Pathogenic | Immunodeficiency 64, Immunodeficiency 64 |
| RS1595816926 | Health Risk | Pathogenic | Immunodeficiency 64, Immunodeficiency 64 |
| RS1595843113 | Health Risk | Pathogenic | Immunodeficiency 64, Immunodeficiency 64 |
| RS1595848141 | Health Risk | Pathogenic | Immunodeficiency 64, Immunodeficiency 64 |
| RS1893731693 | Health Risk | Pathogenic | — |
| RS2141076409 | Health Risk | Pathogenic | — |
| RS2141115536 | Health Risk | Pathogenic | — |
| RS2542868197 | Health Risk | Pathogenic | — |
| RS2542878863 | Health Risk | Pathogenic | — |
| RS2542897406 | Health Risk | Pathogenic | — |
| RS2542897679 | Health Risk | Pathogenic | — |
| RS2542897781 | Health Risk | Pathogenic | — |
| RS374227836 | Health Risk | Pathogenic | — |
| RS750292508 | Health Risk | Pathogenic | — |
| RS758391429 | Health Risk | Pathogenic | — |
| RS758591562 | Health Risk | Pathogenic | — |
| RS779560450 | Health Risk | Pathogenic | Immunodeficiency 64, Immunodeficiency 64 |
| RS1566907313 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 64, Immunodeficiency 64 |
| RS772305736 | Health Risk | Pathogenic/Likely pathogenic | Immunodeficiency 64, Immunodeficiency 64 |