Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.A485T
Back to variants list

COL2A1

NM_001844.5:p.A485T

Associated Papers

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S2.xlsx › Supplementary_Table_S2.

Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report.

Khanmohammadi S et al.

Journal of Clinical Immunology, 2024

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.

Sosinsky A et al.

Nature Medicine, 2024

38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1

Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.

Gellert P et al.

Nature Communications, 2016

27827358 (PubMed )
Supplement: ncomms13294-s4.xlsx › Phase_II

Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

Fabbri G et al.

The Journal of Experimental Medicine, 2013

24127483 (PubMed )
Supplement: supp_jem.20131448_JEM_20131448_TableS2.xlsx › TableS2

Novel mutations target distinct subgroups of medulloblastoma.

Robinson G et al.

Nature, 2012

22722829 (PubMed )
Supplement: NIHMS374717-supplement-table_5.xlsx › Tier1
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."