Information on RAB27A
Basic details
Alt. symbols: RAB27 | RAM | GS2 | HsT18676
Approved name: RAB27A, member RAS oncogene family
Alt. names: rasrelated protein Rab27A | GTPbinding protein Ram | mutant Rasrelated protein Rab27A | rab27
Location: 15q21.3: 55202966 - 55319113 (-)
Gene type: protein_coding, 16 transcripts.
Scores: LoFtool: 0.719000 | pLI: 0.00008234 | LOEUF: 1.653
Normal function
Dysfunction and disease
Griscelli syndrome, type 2 [MIM:607624] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
GS2 |
Griscelli syndrome, type 2 | AR |
607624 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of RAB27A
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000336787.6 | 1 | CCDS10153 | Select | protein_coding | 7 | Yes | 3447 | NM_183235 |
| 202 | ENST00000396307.6 | CCDS10153 | protein_coding | 6 | No | 3459 | NM_004580 | ||
| 205 | ENST00000564609.5 | CCDS10153 | protein_coding | 7 | No | 1057 | NM_183234 | ||
| 212 | ENST00000569493.5 | CCDS10153 | protein_coding | 7 | No | 1013 | NM_183236 | ||
| 214 | ENST00000697642.1 | protein_coding | No | XM_005254576 | |||||
| 215 | ENST00000697643.1 | protein_coding | No | XM_011521852 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene 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 RAB27A
| ID | Year | Title | Journal | PMID | Variants |
|---|