Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R2507H
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APC

NM_001127511.3:p.R2507H

Associated Papers

Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets.

Rodrigues JM et al.

Leukemia & Lymphoma, 2021

34080947 (PubMed )
Supplement: supplement_1.xlsx › Table_S6._Predicted_drivers

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

Family History of Colorectal or Esophageal Cancer in Barrett's Esophagus and Potentially Explanatory Genetic Variants.

Rubenstein JH et al.

Clinical and Translational Gastroenterology, 2020

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Tian Y et al.

Scientific Reports, 2019

31484976 (PubMed )
Supplement: 41598_2019_49224_MOESM2_ESM.xlsx › Sheet1

High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Lee SE et al.

Scientific Reports, 2019

31358837 (PubMed )
Supplement: 41598_2019_47439_MOESM2_ESM.xlsx › Table_S5

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s009.xlsx › S8_Table

Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.

Kim Y et al.

Oncotarget, 2017

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2
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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."