Varaico: Literature-Extracted Genetic Variants

Gene:CHGB
Variant:p.P413L
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CHGB

NM_001819.3:p.P413L

Associated Papers

Chromogranin B: A versatile neuroendocrine protein regulating physiological and metabolic functions.

Mukherjee C et al.

Neuropeptides, 2025

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Genetic Modifiers of ALS: The Impact of Chromogranin B P413L in a Bulgarian ALS Cohort.

Tourtourikov I et al.

Genes, 2024

Brain-body mechanisms contribute to sexual dimorphism in amyotrophic lateral sclerosis.

Jacob SM et al.

Nature Reviews. Neurology, 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_II.docx

Genetics and Sex in the Pathogenesis of Amyotrophic Lateral Sclerosis (ALS): Is There a Link?

Trojsi F et al.

International Journal of Molecular Sciences, 2020

New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis.

Pampalakis G et al.

Human Mutation, 2019

Protein-protein interactions reveal key canonical pathways, upstream regulators, interactome domains, and novel targets in ALS.

Dervishi I et al.

Scientific Reports, 2018

30283000 (PubMed )
Supplement: 41598_2018_32902_MOESM2_ESM.pdf

Secretory granule protein chromogranin B (CHGB) forms an anion channel in membranes.

Yadav GP et al.

Life Science Alliance, 2018

Genetics of Amyotrophic Lateral Sclerosis.

Ghasemi M et al.

Cold Spring Harbor Perspectives in Medicine, 2018

Lack of association between the P413L variant of chromogranin B and ALS risk or age at onset: a meta-analysis.

Yang X et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018

Sex-dependent effects of chromogranin B P413L allelic variant as disease modifier in amyotrophic lateral sclerosis.

Ohta Y et al.

Human Molecular Genetics, 2016

Lack of relationship between the P413L chromogranin B variant and a SALS Italian cohort.

Ricci C et al.

Gene, 2015

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Amyotrophic lateral sclerosis: Problems and prospects.

Sreedharan J et al.

Annals of Neurology, 2013

Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.

Østern R et al.

Neuromuscular Disorders : Nmd, 2012

Recurrent G41S mutation in Cu/Zn superoxide dismutase gene (SOD1) causing familial amyotrophic lateral sclerosis in a large Polish family.

Berdyński M et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2012

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.

Iida A et al.

Human Molecular Genetics, 2011

Permanent diabetes during the first year of life: multiple gene screening in 54 patients.

Russo L et al.

Diabetologia, 2011

21544516 (PubMed )
Supplement: 125_2011_2094_MOESM1_ESM.pdf

The P413L chromogranin B variation in French patients with sporadic amyotrophic lateral sclerosis.

Blasco H et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011

Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease.

Philips T et al.

The Lancet. Neurology, 2011

The neurobiology of amyotrophic lateral sclerosis.

Bento-Abreu A et al.

The European Journal of Neuroscience, 2010

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis.

Gros-Louis F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

Association between chromogranin b gene polymorphisms and schizophrenia in the Japanese population.

Iijima Y et al.

Biological Psychiatry, 2004

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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."