Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP29
Variant:p.K326*
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ARHGAP29

NM_004815.4:p.K326*

Associated Papers

The role of Rho GTPases in facial morphogenesis.

Ibrahim I et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2026

Arhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.

Zhang B et al.

International Journal of Molecular Sciences, 2025

The ectodermal loss of ARHGAP29 alters epithelial morphology and organization and disrupts murine palatal development.

Adelizzi E et al.

Biorxiv : the Preprint Server for Biology, 2025

Four putative pathogenic ARHGAP29 variants in patients with non-syndromic orofacial clefts (NsOFC).

Ranji P et al.

European Journal of Human Genetics : Ejhg, 2025

C1-linker region of PARG1 RhoGAP promotes the catalytic recognition fold of RhoA substrate.

Kouchi Z et al.

Plos One, 2025

A novel splicing mutation of ARHGAP29 is associated with nonsyndromic cleft lip with or without cleft palate.

Yu Q et al.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2022

Targeted re-sequencing on 1p22 among non-syndromic orofacial clefts from Han Chinese population.

Li MJ et al.

Frontiers in Genetics, 2022

Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.

Tang JX et al.

Biomed Research International, 2020

MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip.

Gajera M et al.

Bmc Medical Genomics, 2019

31122291 (PubMed )
Supplement: 12920_2019_535_MOESM1_ESM.zip › 4_Human_Cleft_Lip__Table_S4__Significant_R2.xlsx › Multiple_Genes_Significant

ARHGAP29 Mutation Is Associated with Abnormal Oral Epithelial Adhesions.

Paul BJ et al.

Journal of Dental Research, 2017

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.

Savastano CP et al.

Clinical Genetics, 2017

Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.

Leslie EJ et al.

American Journal of Human Genetics, 2015

Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22.

Leslie EJ et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

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