Identity
HGNC
LOCATION
3p21.31
LOCUSID
ALIAS
EBD1,EBDCT,EBR1,NDNC8
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1294
MIM: 120120
HGNC: 2214
Ensembl: ENSG00000114270
Variants:
dbSNP: 1294
ClinVar: 1294
TCGA: ENSG00000114270
COSMIC: COL7A1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000114270 | ENST00000328333 | Q02388 |
| ENSG00000114270 | ENST00000422991 | C9JBL3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38580989 | 2024 | Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature. | 0 |
| 38580989 | 2024 | Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature. | 0 |
| 34543471 | 2022 | Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity. | 6 |
| 35163654 | 2022 | 5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa. | 6 |
| 35314946 | 2022 | Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families. | 1 |
| 35527172 | 2022 | Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A. | 1 |
| 35560343 | 2022 | COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa. | 2 |
| 35979658 | 2022 | Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation. | 0 |
| 34543471 | 2022 | Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity. | 6 |
| 35163654 | 2022 | 5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa. | 6 |
| 35314946 | 2022 | Novel variants in LAMA3 and COL7A1 and recurrent variant in KRT5 underlying epidermolysis bullosa in five Chinese families. | 1 |
| 35527172 | 2022 | Two cases of the intermediate phenotype of recessive dystrophic epidermolysis bullosa harboring the novel COL7A1 mutation c.3570G>A. | 1 |
| 35560343 | 2022 | COL7A1 G2287R mutation with two clinical phenotypes in the same family: Bullous dermolysis of the newborn and dystrophic epidermolysis bullosa pruriginosa. | 2 |
| 35979658 | 2022 | Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation. | 0 |
| 33258232 | 2021 | Self-improving dystrophic epidermolysis bullosa: First report of clinical, molecular, and genetic characterization of five patients from Southeast Asia. | 2 |
Citation
Dessen P
COL7A1 (collagen type VII alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43769/col7a1
