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HRAS |
Gene Facts External Data Attribution
- HGNC Symbol
- HRAS (HGNC:5173) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- HRas proto-oncogene, GTPase
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- HRAS1
- Alias symbols
- No aliases found
- %HI
- 0.08(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.02(Read more about gnomAD pLI score)
- LOEUF
- 0.89(Read more about gnomAD LOEUF score)
- Cytoband
- 11p15.5
- Genomic Coordinates
-
GRCh37/hg19: chr11:532242-535576 NCBI Ensembl UCSC GRCh38/hg38: chr11:532242-535576 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005343.4 ENST00000311189.8 (Read more about MANE Select)
- MANE Plus Clinical Transcript(s)
-
NM_176795.5 ENST00000417302.7 (Read more about MANE Plus Clinical) - Function
- Involved in the activation of Ras protein signal transduction (PubMed:22821884). Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (PubMed:12740440, PubMed:14500341, PubMed:9020151). {ECO:0000269|PubMed:12740440, ECO:0000269|PubMed:14500341, ECO:0000269|PubMed:22821884, ECO:0000269|PubMed:9020151}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26354
ClinGen Curation ID:
CCID:007299
Curation Status:
Reopened
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Reopened
Triplosensitivity:
Reopened
Last Evaluated:
Reopened
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)
