Varaico: Literature-Extracted Genetic Variants

Gene:SEMG2
Variant:p.R292C
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SEMG2

NM_003008.3:p.R292C

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc2.xlsx › nSMs

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH2T1

Genomic analyses reveal FAM84B and the NOTCH pathway are associated with the progression of esophageal squamous cell carcinoma.

Cheng C et al.

Gigascience, 2016

26759717 (PubMed )
Supplement: 13742_2015_107_MOESM11_ESM.xlsx › SX104.TC.snv.indel

Genomic analyses reveal mutational signatures and frequently altered genes in esophageal squamous cell carcinoma.

Zhang L et al.

American Journal of Human Genetics, 2015

25839328 (PubMed )
Supplement: mmc4.xlsx › Table_S3._Mutation_cohort
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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."