Varaico: Literature-Extracted Genetic Variants

Gene:SH2D2A
Variant:p.L5Q
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SH2D2A

NM_003975.4:p.L5Q

Associated Papers

The evolutionary impact of childhood cancer on the human gene pool.

Stoltze UK et al.

Nature Communications, 2024

38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_11

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Byrjalsen A et al.

Plos Genetics, 2020

33332384 (PubMed )
Supplement: pgen.1009231.s001.xlsx › VUS

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › e__Freq_TP095

Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.

Torrezan GT et al.

Frontiers in Genetics, 2018

29868112 (PubMed )
Supplement: Table_1.DOCX

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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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."