Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP29
Variant:p.T622M
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ARHGAP29

NM_004815.4:p.T622M

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS15

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

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."