Varaico: Literature-Extracted Genetic Variants

Gene:TGM1
Variant:p.R264Q
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TGM1

NM_000359.3:p.R264Q

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_cSrc

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_cSrc

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family.

Almazroea A et al.

Medicina (kaunas, Lithuania), 2023

Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand.

Supsrisunjai C et al.

Pediatric Dermatology, 2023

Bathing suit ichthyosis: Two Burmese siblings and a review of the literature.

Li W et al.

Pediatric Dermatology, 2020

[Analysis of clinical phenotype and TGM1 gene mutation in a child with neonatal congenital ichthyosis].

Hu Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

[Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome].

Vályi P et al.

Fogorvosi Szemle, 2014

Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

Hackett BC et al.

The British Journal of Dermatology, 2010

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Herman ML et al.

Human Mutation, 2009

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.

Oji V et al.

Human Molecular Genetics, 2006

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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."