VSX1 (visual system homeobox 1)

2014-11-01  

Identity

HGNC
LOCATION
20p11.21
LOCUSID
ALIAS
CAASDS,KTCN,KTCN1,PPCD,PPCD1,PPD,RINX

Other Information

Locus ID:

NCBI: 30813
MIM: 605020
HGNC: 12723
Ensembl: ENSG00000100987

Variants:

dbSNP: 30813
ClinVar: 30813
TCGA: ENSG00000100987
COSMIC: VSX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100987ENST00000376707Q9NZR4
ENSG00000100987ENST00000376709Q9NZR4
ENSG00000100987ENST00000409285Q9NZR4
ENSG00000100987ENST00000409958Q9NZR4
ENSG00000100987ENST00000429762Q9NZR4
ENSG00000100987ENST00000444511Q9NZR4

Expression (GTEx)

0
5
10
15
20
25

References

Pubmed IDYearTitleCitations
373226572023The association between VSX1 exon3 gene variants and keratoconus in Malaysian patients.0
373226572023The association between VSX1 exon3 gene variants and keratoconus in Malaysian patients.0
364631812022High VSX1 expression promotes the aggressiveness of clear cell renal cell carcinoma by transcriptionally regulating FKBP10.3
364631812022High VSX1 expression promotes the aggressiveness of clear cell renal cell carcinoma by transcriptionally regulating FKBP10.3
295188812018[A novel VSX1 gene mutation identified in a sporadic keratoconus patient from China].3
305747582018Contributions of VSX1 gene to keratoconus.1
295188812018[A novel VSX1 gene mutation identified in a sporadic keratoconus patient from China].3
305747582018Contributions of VSX1 gene to keratoconus.1
289508462017Analysis of the VSX1 gene in sporadic keratoconus patients from China.7
289508462017Analysis of the VSX1 gene in sporadic keratoconus patients from China.7
278197322016Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus.4
278197322016Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus.4
240992802015Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus.16
259631632015Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.11
240992802015Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus.16

Citation

Dessen P

VSX1 (visual system homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75655/vsx1-(visual-system-homeobox-1)