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: 1417
MIM: 123630
HGNC: 2400
Ensembl: ENSG00000100053
Variants:
dbSNP: 1417
ClinVar: 1417
TCGA: ENSG00000100053
COSMIC: CRYBB3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100053 | ENST00000215855 | P26998 |
| ENSG00000100053 | ENST00000404334 | B1AHR5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 27256633 | 2016 | Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. | 2 |
| 27326458 | 2016 | A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. | 8 |
| 27256633 | 2016 | Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease. | 2 |
| 27326458 | 2016 | A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts. | 8 |
| 15914629 | 2005 | Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. | 67 |
| 15914629 | 2005 | Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. | 67 |
Citation
Dessen P
CRYBB3 (crystallin beta B3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62107/crybb3-(crystallin-beta-b3)
