Varaico: Literature-Extracted Genetic Variants

Gene:GIMAP5
Variant:p.L204P
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GIMAP5

NM_018384.5:p.L204P

Associated Papers

Clinicopathological features of porto-sinusoidal vascular disorder with a novel GIMAP5 mutation in a pair of twin siblings.

Hu J et al.

Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2025

GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.

Park AY et al.

Nature Immunology, 2024

The genetics of portal hypertension: Recent developments and the road ahead.

Shalaby S et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2023

GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension.

Drzewiecki K et al.

The Journal of Experimental Medicine, 2021

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat4

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › LAN6

Loss of GTPase of immunity-associated protein 5 (Gimap5) promotes pathogenic CD4+ T-cell development and allergic airway disease.

Patterson AR et al.

The Journal of Allergy and Clinical Immunology, 2019

Gimap5-dependent inactivation of GSK3β is required for CD4+ T cell homeostasis and prevention of immune pathology.

Patterson AR et al.

Nature Communications, 2018

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA1_Deleterious_Hits

Integrated analysis of germline and somatic variants in ovarian cancer.

Kanchi KL et al.

Nature Communications, 2014

24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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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."