Varaico: Literature-Extracted Genetic Variants

Gene:GIPC3
Variant:p.R189C
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GIPC3

NM_133261.3:p.R189C

Associated Papers

A review of the mechanisms underlying the role of the GIPC3 gene in hereditary deafness.

Li X et al.

Frontiers in Synaptic Neuroscience, 2022

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.

Petrova NV et al.

Genes, 2021

Low incidence of GIPC3 variants among the prelingual hearing impaired from southern India.

Kalaimathi M et al.

Journal of Genetics, 2020

Evolutionary history of human colitis-associated colorectal cancer.

Baker AM et al.

Gut, 2019

29991641 (PubMed )
Supplement: gutjnl-2018-316191supp003.xlsx › Supp_Table_5_-_mutations

modPDZpep: a web resource for structure based analysis of human PDZ-mediated interaction networks.

Sain N et al.

Biology Direct, 2016

27655048 (PubMed )
Supplement: 13062_2016_151_MOESM1_ESM.xls › Sheet4

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH11T2

Functional proteomics, human genetics and cancer biology of GIPC family members.

Katoh M

Experimental & Molecular Medicine, 2013

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.

Rehman AU et al.

Human Genetics, 2011

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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."