Property Summary

NCBI Gene PubMed Count 14
Grant Count 28
R01 Count 20
Funding $3,497,617.63
PubMed Score 19.27
PubTator Score 10.82

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
23679094 VAX1 rs10787760, rs6585429 and rs1871345 polymorphisms may be involved in nonsyndromic cleft lip with or without cleft palate in Brazilian patients, but there is no association with polymorphisms in FGF12, VCL, or CX43
23463464 Our study replicated previous GWAS findings for markers in VAX1 in the Asian population, and identified rare variants in PAX7 and VAX1 that may contribute to the etiology of CL(P).
23081944 The data do not support the hypothesis that highly penetrant rare variants in VAX1 are a cause of nonsyndromic cleft lip with or without cleft palate.
22095910 This is the first description of a patient with a VAX1 mutation and establishes VAX1 as a new causative gene for anophthalmia/microphthalmia (A/M) in humans.

AA Sequence

MFGKPDKMDVRCHSDAEAARVSKNAHKESRESKGAEGNLPAAFLKEPQGAFSASGAAEDCNKSKSNSAAD      1 - 70
PDYCRRILVRDAKGSIREIILPKGLDLDRPKRTRTSFTAEQLYRLEMEFQRCQYVVGRERTELARQLNLS     71 - 140
ETQVKVWFQNRRTKQKKDQGKDSELRSVVSETAATCSVLRLLEQGRLLSPPGLPALLPPCATGALGSALR    141 - 210
GPSLPALGAGAAAGSAAAAAAAAPGPAGAASPHPPAVGGAPGPGPAGPGGLHAGAPAAGHSLFSLPVPSL    211 - 280
LGSVASRLSSAPLTMAGSLAGNLQELSARYLSSSAFEPYSRTNNKEGAEKKALD                    281 - 334
//

Text Mined References (13)

PMID Year Title
23679094 2013 Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.
23463464 2013 Replication 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).
23081944 2012 Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate.
22095910 2012 VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
20023658 2010 Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
17963489 2007 Classification and nomenclature of all human homeobox genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
More...