Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.R396G
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ETV6

NM_001987.5:p.R396G

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.

Wang P et al.

Genome Biology, 2025

40696461 (PubMed )
Supplement: 13059_2025_3667_MOESM1_ESM.xlsx › Overlap_between_lines

ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.

Faleschini M et al.

Haematologica, 2022

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Kim YH et al.

Plos One, 2019

31513681 (PubMed )
Supplement: pone.0222535.s007.xlsx › Sheet1

Detection of a new heterozygous germline ETV6 mutation in a case with hyperdiploid acute lymphoblastic leukemia.

Duployez N et al.

European Journal of Haematology, 2018

The genomic landscape of pediatric myelodysplastic syndromes.

Schwartz JR et al.

Nature Communications, 2017

29146900 (PubMed )
Supplement: 41467_2017_1590_MOESM7_ESM.xlsx › Sup._T4_-_TSCA_rgt

Germline ETV6 mutations and predisposition to hematological malignancies.

Feurstein S et al.

International Journal of Hematology, 2017

ETV6 in hematopoiesis and leukemia predisposition.

Hock H et al.

Seminars in Hematology, 2017

Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.

Poggi M et al.

Haematologica, 2017

Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition.

Baptista RLR et al.

Frontiers in Oncology, 2017

A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer.

Rostagno P et al.

Journal of Human Genetics, 2003

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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."