Varaico: Literature-Extracted Genetic Variants

Gene:ARMC5
Variant:p.Q408R
Back to variants list

ARMC5

NM_001105247.2:p.Q408R

Associated Papers

Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Candidate Genes.

Ma J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

40386946 (PubMed )
Supplement: EMS206315-supplement-Supplementary_Table_5.xlsx › Sheet1

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an update.

Bouys L et al.

Orphanet Journal of Rare Diseases, 2025

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.

Öfverholm I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38573684 (PubMed )
Supplement: ccr-24-0384_supplementary_data_6_suppts6.xlsx › Sheet1

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.

Tang P et al.

Bmc Endocrine Disorders, 2023

ARMC5 Alterations in Patients With Sporadic Neuroendocrine Tumors and Multiple Endocrine Neoplasia Type 1 (MEN1).

Damjanovic SS et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

ARMC5 variants in PRKAR1A-mutated patients modify cortisol levels and Cushing's syndrome.

Maria AG et al.

Endocrine-related Cancer, 2020

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.

Espiard S et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Xu B et al.

Nature Genetics, 2012

23042115 (PubMed )
Supplement: NIHMS410678-supplement-5.xls › suppl_table_2
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."