Identity
HGNC
LOCATION
5q12.1
LOCUSID
ALIAS
AFND,NEDMAGA
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: 57688
MIM: 615951
HGNC: 29316
Ensembl: ENSG00000130449
Variants:
dbSNP: 57688
ClinVar: 57688
TCGA: ENSG00000130449
COSMIC: ZSWIM6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000130449 | ENST00000252744 | Q9HCJ5 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35970861 | 2022 | Classification of early age facial growth pattern and identification of the genetic basis in two Korean populations. | 0 |
| 35970861 | 2022 | Classification of early age facial growth pattern and identification of the genetic basis in two Korean populations. | 0 |
| 29198722 | 2017 | A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. | 17 |
| 29198722 | 2017 | A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. | 17 |
| 26706854 | 2016 | Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. | 15 |
| 26706854 | 2016 | Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. | 15 |
| 25105228 | 2014 | Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. | 29 |
| 25105228 | 2014 | Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. | 29 |
Citation
Dessen P
ZSWIM6 (zinc finger SWIM-type containing 6)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/76509/zswim6-(zinc-finger-swim-type-containing-6)
