Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V1521L
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ATM

NM_000051.4:p.V1521L

Associated Papers

Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.

Can ND et al.

Human Genomics, 2026

41656315 (PubMed )
Supplement: 40246_2026_915_MOESM2_ESM.xlsx › VUS

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

Genomic disparity impacts variant classification of cancer susceptibility genes in Turkish breast cancer patients.

Agaoglu NB et al.

Cancer Medicine, 2024

38308423 (PubMed )
Supplement: CAM4-13-e6852-s005.xlsx › Supp_Table_4

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S14

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_2.xlsx › Sheet1

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.s010.xlsx › S9_Table

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12

Oncogenic activity of BIRC2 and BIRC3 mutants independent of nuclear factor-κB-activating potential.

Yamato A et al.

Cancer Science, 2015

26094954 (PubMed )
Supplement: cas0106-1137-sd10.xlsx › Sheet1
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