Varaico: Literature-Extracted Genetic Variants

Gene:HCAR3
Variant:p.H253R
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HCAR3

NM_006018.3:p.H253R

Associated Papers

Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.

Andres EM et al.

Brain Sciences, 2021

35053791 (PubMed )
Supplement: brainsci-12-00047-s001.zip › brainsci-1490268_Tables_S1-7_Dec29-2021.xlsx › Table_S1._137variants

Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.

Kim M et al.

Endocrinology and Metabolism (seoul, Korea), 2021

34731936 (PubMed )
Supplement: enm-2021-1132-suppl2.pdf

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Mutational signatures and the genomic landscape of betel quid chewing-associated tongue carcinoma.

Zhang W et al.

Cancer Medicine, 2019

30672146 (PubMed )
Supplement: CAM4-8-701-s012.xlsx › Table_S11

Aberrant activation of the PI3K/mTOR pathway promotes resistance to sorafenib in AML.

Lindblad O et al.

Oncogene, 2016

26999641 (PubMed )
Supplement: onc201641x2.pdf

Ability to Generate Patient-Derived Breast Cancer Xenografts Is Enhanced in Chemoresistant Disease and Predicts Poor Patient Outcomes.

McAuliffe PF et al.

Plos One, 2015

26325287 (PubMed )
Supplement: pone.0136851.s005.xlsx › all

Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors.

Zellner C et al.

Human Mutation, 2005

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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."