Information on RASGRP1
Alt. symbols: CalDAG-GEFII | RASGRP
Approved name: RAS guanyl releasing protein 1
Alt. names: RAS guanyl releasing protein 1 (calcium and DAG-regulated) | calcium- and diacylglycerol-regulated guanine nucleotide exchange factor II
Location: 15q14: 38488103 - 38565575 (-)
Gene type: protein_coding, 25 transcripts.
Scores: LoFtool: 0.775000 | pLI: 0.18967697 | LOEUF: 0.318
Gene Ontology (GO)
- Molecular function: guanyl-nucleotide exchange factor activity [GO:0005085]
- Cell component: plasma membrane [GO:0005886]
- Biological process: Ras protein signal transduction [GO:0007265]; positive regulation of GTPase activity [GO:0043547]
Normal function
Dysfunction and disease
Biallelic stop-gain variant in RASGRP1 have been shown to cause immunodeficiency with impaired cytoskeletal dynamics. [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD64 |
Immunodeficiency 64 | AR |
618534 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of RASGRP1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000310803.10 | CCDS45222 | Select | protein_coding | 17 | Yes | 5031 | NM_005739 | |
| 207 | ENST00000558418.6 | protein_coding | No | 547 | XM_047432073 | ||||
| 202 | ENST00000414708.6 | nonsense_mediated_decay | No | 2151 | XM_047432077 | ||||
| 203 | ENST00000450598.6 | CCDS45221 | protein_coding | 16 | No | 2296 | NM_001128602 | ||
| 209 | ENST00000559830.5 | CCDS76733 | protein_coding | 15 | No | 1910 | NM_001306086 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in RASGRP1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|