Varaico: Literature-Extracted Genetic Variants

Gene:AXIN1
Variant:p.R723*
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AXIN1

NM_003502.4:p.R723*

Associated Papers

Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.

Padmanarayana M et al.

Biorxiv : the Preprint Server for Biology, 2025

41278994 (PubMed )
Supplement: media-2.xlsx › AXIN1

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

Analysis of Tumor-Associated AXIN1 Missense Mutations Identifies Variants That Activate β-Catenin Signaling.

Zhang R et al.

Cancer Research, 2024

38359148 (PubMed )
Supplement: can-23-2268_supplementary_table_7_suppst7.xlsx › CRC-Mutations_

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

Terhal P et al.

American Journal of Human Genetics, 2023

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM2_ESM.pdf

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

Oncogenic Serine 45-Deleted β-Catenin Remains Susceptible to Wnt Stimulation and APC Regulation in Human Colonocytes.

Parker TW et al.

Cancers, 2020

32751567 (PubMed )
Supplement: cancers-12-02114-s001.zip › cancers-848197_Supplementary_Data_Files_Parker_Rudeen_Neufeld_11july20.xlsx › Axin1_Mutations

Common Secondary Genomic Variants Associated With Advanced Epithelioid Hemangioendothelioma.

Seligson ND et al.

Jama Network Open, 2019

31577358 (PubMed )
Supplement: jamanetwopen-2-e1912416-s001.pdf
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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."