VAX1 (ventral anterior homeobox 1)

2016-10-01  

Identity

HGNC
LOCATION
10q25.3
LOCUSID
ALIAS
MCOPS11

Other Information

Locus ID:

NCBI: 11023
MIM: 604294
HGNC: 12660
Ensembl: ENSG00000148704

Variants:

dbSNP: 11023
ClinVar: 11023
TCGA: ENSG00000148704
COSMIC: VAX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148704ENST00000277905Q5SQQ9
ENSG00000148704ENST00000369206Q5SQQ9

Expression (GTEx)

0
1
2

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
234634642013Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P).22
220959102012VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.20
236790942013Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.8
230819442012Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.5
300488542018VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese.2
283834242017Polymorphic variants in VAX1 and the risk of nonsyndromic cleft lip with or without cleft palate in a population from northern China.0
306335592019Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients.0

Citation

Dessen P

VAX1 (ventral anterior homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56295/vax1