Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.V519I
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ATM

NM_000051.4:p.V519I

Associated Papers

Understanding the prevalence of germline oncogenic biomarker variants across the Indian population.

Vatsyayan A et al.

Journal of Genetics, 2025

The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.

Bolze A et al.

Jama Oncology, 2024

38153744 (PubMed )
Supplement: jamaoncol-e235468-s002.xlsx › eTable_4

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients.

Jiang LX et al.

World Journal of Gastroenterology, 2023

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Kasugai Y et al.

Cancer Science, 2022

35218119 (PubMed )
Supplement: CAS-113-1451-s002.xlsx › Table_S1

Detection and analysis of common pathogenic germline mutations in Peutz-Jeghers syndrome.

Gu GL et al.

World Journal of Gastroenterology, 2021

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y et al.

Nature Communications, 2018

30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM4_ESM.xlsx › SD1
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