Varaico: Literature-Extracted Genetic Variants

Gene:GNA14
Variant:p.Q205L
Back to variants list

GNA14

NM_004297.4:p.Q205L

Associated Papers

Molecular Characterization of Vascular Anomalies Tissues Guides Clinical Diagnosis.

Henslee SB et al.

Lymphatic Research and Biology, 2026

GNAQ-/GNA14-mutated hepatic vascular malformation with capillary proliferation in adults and children.

Fischer AK et al.

Human Pathology, 2025

Advances in vascular anomalies: refining classification in the molecular era.

Putra J et al.

Histopathology, 2025

Cerebral vascular malformations: pathogenesis and therapy.

He Q et al.

Medcomm, 2024

GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.

Pilch J et al.

Cancers, 2024

Sporadic hypertrophic and nodular port-wine stain: a study of 27 cases with emphasis on histological features and novel mutation type.

Xue S et al.

Journal of Clinical Pathology, 2024

GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas.

Ren J et al.

American Journal of Human Genetics, 2024

Benign and low-grade superficial endothelial cell neoplasms in the molecular era.

Diaz-Perez JA et al.

Seminars in Diagnostic Pathology, 2023

Case Report: Kaposiform hemangioendothelioma with PIK3CA mutation successfully treated with sirolimus.

Wang Z et al.

Frontiers in Oncology, 2023

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.

Carli D et al.

Clinical Genetics, 2021

Functional characterization of uveal melanoma oncogenes.

Ma J et al.

Oncogene, 2021

GNA14, GNA11, and GNAQ Mutations Are Frequent in Benign but Not Malignant Cutaneous Vascular Tumors.

Jansen P et al.

Frontiers in Genetics, 2021

Congenital hepatic hemangiomas: Clinical, histologic, and genetic correlation.

Triana P et al.

Journal of Pediatric Surgery, 2020

Diffuse bone and soft tissue angiomatosis with GNAQ mutation.

Gaeta R et al.

Pathology International, 2020

GNA11 joins GNAQ and GNA14 as a recurrently mutated gene in anastomosing hemangioma.

Liau JY et al.

Virchows Archiv : an International Journal of Pathology, 2020

High frequency of GNA14, GNAQ, and GNA11 mutations in cherry hemangioma: a histopathological and molecular study of 85 cases indicating GNA14 as the most commonly mutated gene in vascular neoplasms.

Liau JY et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Oral pyogenic granulomas show MAPK/ERK signaling pathway activation, which occurs independently of BRAF, KRAS, HRAS, NRAS, GNA11, and GNA14 mutations.

Pereira TDSF et al.

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2019

Tufted angioma with associated Kasabach-Merritt phenomenon caused by somatic mutation in GNA14.

Lim YH et al.

Pediatric Dermatology, 2019

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.

Barclay SF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Frequent GNAQ and GNA14 Mutations in Hepatic Small Vessel Neoplasm.

Joseph NM et al.

The American Journal of Surgical Pathology, 2018

Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome.

Huang L et al.

Pediatric Neurology, 2017

GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation.

Lim YH et al.

American Journal of Human Genetics, 2016

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."