Varaico: Literature-Extracted Genetic Variants

Gene:ITIH1
Variant:p.Q595R
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ITIH1

NM_002215.4:p.Q595R

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Skuladottir AT et al.

Nature Communications, 2022

35332129 (PubMed )
Supplement: 41467_2022_29133_MOESM4_ESM.xlsx › Supp._Data_4

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s006.xlsx › Sheet1

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

Tanisawa K et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017

27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S3

Host genetic variation impacts microbiome composition across human body sites.

Blekhman R et al.

Genome Biology, 2015

26374288 (PubMed )
Supplement: 13059_2015_759_MOESM2_ESM.pdf

A functional SNP in ITIH3 is associated with susceptibility to myocardial infarction.

Ebana Y et al.

Journal of Human Genetics, 2007

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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."