Varaico: Literature-Extracted Genetic Variants

Gene:TINF2
Variant:p.K280*
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TINF2

NM_001099274.3:p.K280*

Associated Papers

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.

Jensen MR et al.

Hgg Advances, 2023

37646013 (PubMed )
Supplement: mmc1.pdf

de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.

Kocheva SA et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Norris K et al.

Human Genetics, 2021

33709208 (PubMed )
Supplement: 439_2021_2257_MOESM1_ESM.pdf

TIN2 Functions with TPP1/POT1 To Stimulate Telomerase Processivity.

Pike AM et al.

Molecular and Cellular Biology, 2019

Telomere-regulating genes and the telomere interactome in familial cancers.

Robles-Espinoza CD et al.

Molecular Cancer Research : Mcr, 2015

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Sasa GS et al.

Clinical Genetics, 2012

TIN2 stability is regulated by the E3 ligase Siah2.

Bhanot M et al.

Molecular and Cellular Biology, 2012

A role for heterochromatin protein 1γ at human telomeres.

Canudas S et al.

Genes & Development, 2011

Telomere dysfunction in human diseases: the long and short of it!

Carroll KA et al.

International Journal of Clinical and Experimental Pathology, 2009

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Walne AJ et al.

Blood, 2008

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