Varaico: Literature-Extracted Genetic Variants

Gene:TGFBI
Variant:p.F540S
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TGFBI

NM_000358.3:p.F540S

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_-_Grb2

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_-_Grb2

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S2_.xlsx › Sheet1

A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.

Mohammadi A et al.

Iranian Journal of Basic Medical Sciences, 2020

Pharmaceutical modulation of the proteolytic profile of Transforming Growth Factor Beta induced protein (TGFBIp) offers a new avenue for treatment of TGFBI-corneal dystrophy.

Venkatraman A et al.

Journal of Advanced Research, 2020

Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.

Malkondu F et al.

Turkish Journal of Ophthalmology, 2020

Novel Mutations Associated With Various Types of Corneal Dystrophies in a Han Chinese Population.

Zhang J et al.

Frontiers in Genetics, 2019

Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.

Christie KA et al.

Scientific Reports, 2017

29170458 (PubMed )
Supplement: 41598_2017_16279_MOESM1_ESM.pdf

Lacritin and other autophagy associated proteins in ocular surface health.

Karnati R et al.

Experimental Eye Research, 2016

Pathogenesis and treatments of TGFBI corneal dystrophies.

Han KE et al.

Progress in Retinal and Eye Research, 2016

Biochemical properties and aggregation propensity of transforming growth factor-induced protein (TGFBIp) and the amyloid forming mutants.

Lakshminarayanan R et al.

The Ocular Surface, 2015

Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.

Lakshminarayanan R et al.

The Ocular Surface, 2014

Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.

Dasari S et al.

Journal of Proteome Research, 2014

24650283 (PubMed )
Supplement: pr4011475_si_001.pdf

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy.

Pampukha VM et al.

Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2009

Genetics of corneal dystrophies: the evolving landscape.

Pieramici SF et al.

Current Opinion in Ophthalmology, 2006

TGFBI gene mutations in corneal dystrophies.

Kannabiran C et al.

Human Mutation, 2006

Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

Stix B et al.

Investigative Ophthalmology & Visual Science, 2005

Genetics of anterior and stromal corneal dystrophies.

Poulaki V et al.

Seminars in Ophthalmology, 0

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