ERCC6L2 ERCC excision repair 6 like 2
Gene ID: 375748, updated on 7-Apr-2024Gene type: protein coding
Also known as: HEBO; BMFS2; SR278; RAD26L; C9orf102
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- Go to complete Gene record for ERCC6L2
- Go to Variation Viewer for ERCC6L2 variants
Summary
This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]
Associated conditions
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| Description | Tests |
|---|---|
| Pancytopenia-developmental delay syndrome | See labs |
Genomic context
- Location:
- 9q22.32
- Sequence:
- Chromosome: 9; NC_000009.12 (95875691..96041092)
- Total number of exons:
- 28
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ERCC6L2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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