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
119787622002VSX1: a gene for posterior polymorphous dystrophy and keratoconus.83
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
156237522005VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.44
156237522005VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.44
219769592011Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.38
190110152009Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.36
167990192006No VSX1 gene mutations associated with keratoconus.34
200235862010Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.32
200235862010Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.32
186265692008VSX1 gene variants are associated with keratoconus in unrelated Korean patients.31

Citation

Dessen P

VSX1 (visual system homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75655/vsx1