Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Q336_Y337Splc
Back to variants list

CHEK2

NM_007194.4:p.Q336_Y337Splc

Associated Papers

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM5_ESM.xls › CHEK2_Supplemental_Table_4_v25

Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.

Kim YN et al.

Cancers, 2022

35884469 (PubMed )
Supplement: cancers-14-03406-s001.zip › cancers-1792460-supplementary.pdf

RNA Sequencing Provides Evidence for Pathogenicity of a Novel CHEK2 Splice Variant (C.1009-7T>G).

Na R et al.

Annals of Laboratory Medicine, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."