Varaico: Literature-Extracted Genetic Variants

Gene:TIE1
Variant:p.R1109H
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TIE1

NM_005424.5:p.R1109H

Associated Papers

Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.

Nieminen TT et al.

Bmc Cancer, 2025

41023686 (PubMed )
Supplement: 12885_2025_14865_MOESM2_ESM.xlsx › Ad_IV.10_HNPCC20

Proteogenomic characterization of invasive breast tumors in young women.

Raj-Kumar PK et al.

Npj Breast Cancer, 2025

40826002 (PubMed )
Supplement: 41523_2025_793_MOESM3_ESM.xlsx › S2E

Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.

Brouillard P et al.

The Journal of Clinical Investigation, 2024

TIE1 as a Candidate Gene for Lymphatic Malformations with or without Lymphedema.

Michelini S et al.

International Journal of Molecular Sciences, 2020

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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."